This case study documents the medical history and treatment of a 17-year-old female patient presenting with acute dyspnea and decreased breath sounds in her left lung. Physical examination revealed clubbing of the fingers, paronychia, and signs of recurrent eczema. Diagnostic tests showed left empyema thoracis and right lung abscess. The patient was diagnosed with hyper IgE syndrome based on her clinical history of recurrent infections, eczema, elevated IgE levels, and a score of 43 on the NIH clinical scoring system. She received IV antibiotics, chest tube placement, and supportive care. Genetic testing was pending to identify the specific type of hyper IgE syndrome.
Hyper-IgE Syndrome, also known as Job's syndrome or Buckley's syndrome, is a rare primary immunodeficiency disorder characterized by elevated serum immunoglobulin E (IgE) levels, eczema, recurrent skin and lung infections, and a distinctive facial appearance. There are both autosomal dominant and recessive forms. The autosomal dominant form is caused by mutations in the STAT3 gene and is characterized by clinical features including newborn rash, boils, pneumonia, pneumatoceles, and elevated IgE levels above 2000 IU/mL. Patients often have a characteristic facial appearance, dental abnormalities, fractures from minimal trauma, and brain and vascular abnormalities. The disorder results from defects in the JAK
This document summarizes hyper IgE syndrome, a rare genetic disorder characterized by recurrent skin and lung infections and extremely high levels of IgE antibodies. It exists in two forms - autosomal dominant and autosomal recessive - caused by mutations in the STAT3, DOCK8, and TYK2 genes. The autosomal dominant form presents with eczema, lung infections, characteristic facial features, bone fractures, and serum IgE over 2000 IU/ml. The autosomal recessive forms, caused by DOCK8 and TYK2 mutations, present similarly but without bone or facial abnormalities. Diagnosis involves clinical features, genetic testing, and immunological abnormalities like low Th17 cells. Treatment focuses on long-
Hyper-IgE Syndrome is characterized by elevated immunoglobulin E levels and recurrent skin and lung infections. It can be caused by autosomal dominant or recessive mutations. Autosomal dominant Hyper-IgE Syndrome is caused by STAT3 deficiency and is associated with eczema, pneumonia, skeletal abnormalities, and connective tissue problems. Autosomal recessive Hyper-IgE Syndrome is caused by DOCK8 deficiency and has additional neurological symptoms, malignancies, and food allergies compared to the dominant form. Both forms involve immunological defects and require treatment and management of infections.
This document discusses the history and classification of Hyper IgE Syndrome (HIES). It describes the two main forms: autosomal dominant HIES caused by STAT3 mutations and autosomal recessive HIES caused by mutations in genes like DOCK8, TYK2, PGM3 and ZNF341. It outlines the clinical manifestations, pathogenesis, diagnosis and management of both forms of HIES. The role of the JAK-STAT pathway and specific cytokines in mediating the immune defects and symptoms associated with each type of HIES mutation is explored.
Common Variable Immunodeficiency (CVID) is a heterogeneous group of disorders characterized by low levels of immunoglobulins and recurrent bacterial infections. The exact pathogenesis is unknown in most cases, though approximately 20-25% of cases are now considered monogenic defects. These include mutations affecting B cell development and function, such as ICOS, TACI, BAFF-R, CD19, CD21, CD81, as well as defects in immune regulation genes like PIK3CD, PIK3R1, CTLA4, and LRBA. Affected individuals present with recurrent respiratory infections, gastrointestinal infections, and autoimmunity.
This document provides an overview of hyper IgE syndrome (HIES). It discusses the two main classifications of HIES - autosomal dominant (AD-HIES) and autosomal recessive (AR-HIES). AD-HIES is caused by mutations in the STAT3 gene and is characterized by eczema, respiratory infections, and elevated IgE levels, as well as skeletal and connective tissue abnormalities. AR-HIES can be caused by mutations in DOCK8, TYK2, PGM3, or other genes. It presents similarly to AD-HIES immunologically but without skeletal features. Laboratory findings include elevated IgE, eosinophilia, and lymphopenia. Management involves treatment
This document discusses autoinflammatory diseases, which are characterized by dysregulation of the innate immune system leading to recurrent, unprovoked inflammation without high autoantibodies or T cells. Common autoinflammatory diseases are caused by mutations that activate the inflammasomes or interferon pathways. Autoinflammatory diseases typically begin in childhood and can cause fever, rash, and organ inflammation. The pathophysiology involves cytosolic pattern recognition receptors such as NLRs, RLRs, and DNA sensors that activate the inflammasomes or interferon response when mutated.
Common variable immune deficiency (CVID) is the most common and clinically significant primary antibody deficiency. It is defined by low levels of immunoglobulins IgG, IgA and/or IgM and impaired antibody production. Patients present with recurrent infections, autoimmunity, lymphoproliferation or malignancy. While the cause is unknown in most cases, genetic defects have been identified in a minority of patients. Treatment involves immunoglobulin replacement therapy, treatment of infections and complications, and monitoring for associated conditions. Prognosis has improved with treatment but morbidity and mortality remain higher than the general population.
Hyper-IgE Syndrome, also known as Job's syndrome or Buckley's syndrome, is a rare primary immunodeficiency disorder characterized by elevated serum immunoglobulin E (IgE) levels, eczema, recurrent skin and lung infections, and a distinctive facial appearance. There are both autosomal dominant and recessive forms. The autosomal dominant form is caused by mutations in the STAT3 gene and is characterized by clinical features including newborn rash, boils, pneumonia, pneumatoceles, and elevated IgE levels above 2000 IU/mL. Patients often have a characteristic facial appearance, dental abnormalities, fractures from minimal trauma, and brain and vascular abnormalities. The disorder results from defects in the JAK
This document summarizes hyper IgE syndrome, a rare genetic disorder characterized by recurrent skin and lung infections and extremely high levels of IgE antibodies. It exists in two forms - autosomal dominant and autosomal recessive - caused by mutations in the STAT3, DOCK8, and TYK2 genes. The autosomal dominant form presents with eczema, lung infections, characteristic facial features, bone fractures, and serum IgE over 2000 IU/ml. The autosomal recessive forms, caused by DOCK8 and TYK2 mutations, present similarly but without bone or facial abnormalities. Diagnosis involves clinical features, genetic testing, and immunological abnormalities like low Th17 cells. Treatment focuses on long-
Hyper-IgE Syndrome is characterized by elevated immunoglobulin E levels and recurrent skin and lung infections. It can be caused by autosomal dominant or recessive mutations. Autosomal dominant Hyper-IgE Syndrome is caused by STAT3 deficiency and is associated with eczema, pneumonia, skeletal abnormalities, and connective tissue problems. Autosomal recessive Hyper-IgE Syndrome is caused by DOCK8 deficiency and has additional neurological symptoms, malignancies, and food allergies compared to the dominant form. Both forms involve immunological defects and require treatment and management of infections.
This document discusses the history and classification of Hyper IgE Syndrome (HIES). It describes the two main forms: autosomal dominant HIES caused by STAT3 mutations and autosomal recessive HIES caused by mutations in genes like DOCK8, TYK2, PGM3 and ZNF341. It outlines the clinical manifestations, pathogenesis, diagnosis and management of both forms of HIES. The role of the JAK-STAT pathway and specific cytokines in mediating the immune defects and symptoms associated with each type of HIES mutation is explored.
Common Variable Immunodeficiency (CVID) is a heterogeneous group of disorders characterized by low levels of immunoglobulins and recurrent bacterial infections. The exact pathogenesis is unknown in most cases, though approximately 20-25% of cases are now considered monogenic defects. These include mutations affecting B cell development and function, such as ICOS, TACI, BAFF-R, CD19, CD21, CD81, as well as defects in immune regulation genes like PIK3CD, PIK3R1, CTLA4, and LRBA. Affected individuals present with recurrent respiratory infections, gastrointestinal infections, and autoimmunity.
This document provides an overview of hyper IgE syndrome (HIES). It discusses the two main classifications of HIES - autosomal dominant (AD-HIES) and autosomal recessive (AR-HIES). AD-HIES is caused by mutations in the STAT3 gene and is characterized by eczema, respiratory infections, and elevated IgE levels, as well as skeletal and connective tissue abnormalities. AR-HIES can be caused by mutations in DOCK8, TYK2, PGM3, or other genes. It presents similarly to AD-HIES immunologically but without skeletal features. Laboratory findings include elevated IgE, eosinophilia, and lymphopenia. Management involves treatment
This document discusses autoinflammatory diseases, which are characterized by dysregulation of the innate immune system leading to recurrent, unprovoked inflammation without high autoantibodies or T cells. Common autoinflammatory diseases are caused by mutations that activate the inflammasomes or interferon pathways. Autoinflammatory diseases typically begin in childhood and can cause fever, rash, and organ inflammation. The pathophysiology involves cytosolic pattern recognition receptors such as NLRs, RLRs, and DNA sensors that activate the inflammasomes or interferon response when mutated.
Common variable immune deficiency (CVID) is the most common and clinically significant primary antibody deficiency. It is defined by low levels of immunoglobulins IgG, IgA and/or IgM and impaired antibody production. Patients present with recurrent infections, autoimmunity, lymphoproliferation or malignancy. While the cause is unknown in most cases, genetic defects have been identified in a minority of patients. Treatment involves immunoglobulin replacement therapy, treatment of infections and complications, and monitoring for associated conditions. Prognosis has improved with treatment but morbidity and mortality remain higher than the general population.
This document provides an overview of the approach to evaluating primary immunodeficiency. It discusses the importance of differentiating primary from secondary immunodeficiency. The most common presentations of primary immunodeficiency are recurrent infections, especially of the ear, sinus, lungs and gastrointestinal tract. A thorough history and physical exam can provide clues to the underlying immunodeficiency. Initial screening tests include a complete blood count, immunoglobulin levels and lymphocyte subset analysis. Further specialized testing helps characterize the specific immune deficiency.
Hyper IgM Syndrome is characterized by immunodeficiency with elevated serum IgM and low or absent other immunoglobulins due to a defect in class switching recombination. The most common form is X-linked Hyper IgM Syndrome caused by mutations in the CD40 ligand gene, affecting approximately 1 in 1,000,000 males. Clinical manifestations include recurrent respiratory and gastrointestinal infections. Treatment involves hematopoietic stem cell transplantation which is curative but has better outcomes when performed at a younger age before organ damage develops.
This document provides an overview of primary immunodeficiencies, including definitions, classifications, and details on specific deficiencies affecting B cells/antibodies, T cells, phagocytes, complement, and others. It discusses conditions like SCID, Wiskott-Aldrich syndrome, hyper-IgM syndrome, ataxia-telangiectasia, and DiGeorge syndrome. Diagnostic approaches like lymphocyte counts, genetic testing, and flow cytometry are also summarized.
Chronic granulomatous disease is a rare inherited disorder characterized by defects in the NADPH oxidase system, which leads to recurrent infections. It is caused by mutations affecting components of the NADPH oxidase enzyme complex, resulting in the inability of phagocytes to produce reactive oxygen species to kill certain bacteria and fungi. Patients present with recurrent infections of the lungs, skin, lymph nodes, liver or bones by catalase-positive organisms. Treatment involves lifelong antibiotic prophylaxis, with hematopoietic stem cell transplantation or gene therapy as curative options.
Autoinflammatory syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation without involvement of autoantibodies or abnormal T and B cells. They are caused by errors in the innate immune system and result in fever, joint pain, skin rashes, and abdominal pain. Some examples include familial Mediterranean fever, hyperimmunoglobin D syndrome, mevalonate kinase deficiency, and tumor necrosis factor receptor associated periodic syndrome. Genetic mutations can also cause specific autoinflammatory syndromes, such as Blau syndrome caused by a NOD2 gene mutation and Majeed syndrome caused by mutations in the LPIN2 gene.
This document discusses phagocytic dysfunction and chronic granulomatous disease. It describes the different types of phagocytes, including professional phagocytes like macrophages, neutrophils, and dendritic cells. It explains the role of opsonins and receptors in phagocytosis. Chronic granulomatous disease is described as a defect in the NADPH oxidase complex resulting in impaired oxidative burst and increased susceptibility to catalase-positive bacteria. Diagnosis can be made through tests like the nitroblue tetrazolium reduction test or dihydrorhodamine flow cytometry.
Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia, poor response to vaccination, and increased susceptibility to infection. It is the most common symptomatic antibody deficiency disorder. The pathogenesis of CVID involves defects in B cell differentiation and antibody production that can be caused by genetic mutations affecting surface molecules, cytosolic proteins, or nuclear factors involved in B cell development and antibody class switching. While most cases of CVID are sporadic, about 5-25% show familial inheritance in an autosomal dominant pattern.
Common variable immunodeficiency is characterized by low levels of immunoglobulins and recurrent sinopulmonary infections. It is usually diagnosed in the second or third decade of life. Complications include autoimmune diseases, gastrointestinal problems, malignancies, and neurodegenerative disorders. Treatment involves immunoglobulin replacement therapy and monitoring for pulmonary damage and infections. Prognosis is generally good with immune globulin therapy, though those diagnosed after irreversible lung disease develop a shorter lifespan.
This document discusses the approach to diagnosing and treating histiocytosis syndromes in childhood. It is a diverse group of disorders involving an abnormal proliferation of histiocytes (monocyte-macrophage cells). The main types discussed are Langerhans cell histiocytosis (LCH), hemophagocytic lymphohistiocytosis (HLH), and reactive histiocytosis. LCH is characterized by Langerhans cells with Birbeck granules, while HLH involves an uncontrolled activation of macrophages and T-cells. Diagnosis involves biopsy and immunochemistry. Treatment depends on risk stratification and number of organ systems involved, ranging from monitoring to chemotherapy. Long-term follow-up is important due to the disease
Common Variable Immunodeficiency (CVID) is a heterogeneous group of disorders characterized by low levels of immunoglobulins and recurrent bacterial infections. It is defined as a marked decrease in IgG and IgA or IgM, onset after age 2, poor response to vaccines, and exclusion of other causes. CVID can cause lung disease including bronchiectasis and granulomatous lymphocytic interstitial lung disease (GLILD), as well as diffuse granulomatous involvement of organs. Management involves immunoglobulin replacement therapy, treatment of infections, and immunosuppressants like corticosteroids for lung involvement. Genetic factors contribute to some cases but most have no identified genetic cause.
Henoch–Schönlein purpura (HSP) is the most common vasculitis of childhood that presents with a tetrad of purpura, arthritis/arthralgia, abdominal pain, and renal involvement. It is characterized by IgA-containing immune complexes depositing in small vessels, skin, GI tract, joints, and kidneys. The diagnosis is based on purpura with lower limb predominance and at least one of the other criteria. Imaging and labs help assess organ involvement while biopsy confirms the diagnosis.
This document provides an overview of hemophagocytic lymphohistiocytosis (HLH). It begins by introducing HLH and describing its characteristics such as fever, hepatosplenomegaly, and cytopenias. It then discusses the classification of primary and secondary HLH, epidemiology, genetic causes, clinical features, diagnostic guidelines, treatment protocols, and long-term follow up recommendations. For the patient presented, the document recommends following the HLH-2004 treatment protocol initially and considering continuation therapy or stem cell transplant depending on the disease response and severity.
This document outlines hypersensitivity pneumonitis (HP), beginning with its historical perspective of being first described in farmers exposed to moldy grains in the early 1900s. It then discusses the epidemiology, finding HP prevalence is less than 2% and most common causes are exposure to avian proteins. The pathogenesis involves an abnormal immune response to inhaled antigens like organic materials from birds or fungi. Clinical findings are described for acute, subacute and chronic HP, with acute presenting with flu-like symptoms and subacute/chronic showing interstitial lung disease on imaging and pulmonary function tests.
Selective IgA deficiency is the most common primary antibody deficiency, where there is an absence of IgA antibodies in the blood and secretions. IgA antibodies help protect mucosal surfaces from infection. While most people with selective IgA deficiency are asymptomatic, some experience recurrent sinopulmonary or gastrointestinal infections. The condition is diagnosed through blood tests showing low or absent IgA levels alongside normal levels of other antibodies. Treatment focuses on preventing infections and managing any associated conditions. The prognosis is generally good, though there is a small risk of developing other immune deficiencies.
Non-resolving pneumonia can have several causes, including misdiagnosis of the pathogen, host factors like comorbidities or immune deficiencies, or development of complications from the initial infection. Normal resolution of pneumonia involves improvement within 3-5 days, while slow resolution may take over a month. Factors like age, severity of illness, and the infectious agent can impact the rate of resolution. Evaluation of non-resolving cases should consider multidrug-resistant bacteria, non-bacterial pathogens, underlying host conditions, or non-infectious mimickers of pneumonia.
This document discusses antineutrophil cytoplasmic antibodies (ANCA). It notes that ANCA are autoantibodies related to inflammatory disorders and were first associated with Wegener's granulomatosis in 1985. The two main ANCA antigens are proteinase 3 and myeloperoxidase. ANCA testing can aid in diagnosing and monitoring ANCA-associated vasculitis conditions. However, increasing ANCA titers do not reliably predict disease relapses.
Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes cannot kill ingested bacteria and fungi, leading to recurrent infections. It is caused by mutations affecting the NADPH oxidase enzyme complex needed for reactive oxygen species production. Patients experience severe lung, skin, and organ infections from catalase-positive microbes early in life. Diagnosis involves tests assessing reactive oxygen species levels. Treatment requires lifelong antibiotics, antifungals, immunoglobulin therapy, and stem cell transplantation.
MAPAS CONCEPTUALES DE FOTODERMATOSIS EN BASE A LIBRO TINCOPA-WONG, TRUJILLO, PERU
AUDIOLIBRO EN https://www.youtube.com/watch?v=YmzhFYjeW88&index=4&list=PLPvC6O51XGAEhVunFw-X_a640zqtxFCH6
This document provides an overview of the approach to evaluating primary immunodeficiency. It discusses the importance of differentiating primary from secondary immunodeficiency. The most common presentations of primary immunodeficiency are recurrent infections, especially of the ear, sinus, lungs and gastrointestinal tract. A thorough history and physical exam can provide clues to the underlying immunodeficiency. Initial screening tests include a complete blood count, immunoglobulin levels and lymphocyte subset analysis. Further specialized testing helps characterize the specific immune deficiency.
Hyper IgM Syndrome is characterized by immunodeficiency with elevated serum IgM and low or absent other immunoglobulins due to a defect in class switching recombination. The most common form is X-linked Hyper IgM Syndrome caused by mutations in the CD40 ligand gene, affecting approximately 1 in 1,000,000 males. Clinical manifestations include recurrent respiratory and gastrointestinal infections. Treatment involves hematopoietic stem cell transplantation which is curative but has better outcomes when performed at a younger age before organ damage develops.
This document provides an overview of primary immunodeficiencies, including definitions, classifications, and details on specific deficiencies affecting B cells/antibodies, T cells, phagocytes, complement, and others. It discusses conditions like SCID, Wiskott-Aldrich syndrome, hyper-IgM syndrome, ataxia-telangiectasia, and DiGeorge syndrome. Diagnostic approaches like lymphocyte counts, genetic testing, and flow cytometry are also summarized.
Chronic granulomatous disease is a rare inherited disorder characterized by defects in the NADPH oxidase system, which leads to recurrent infections. It is caused by mutations affecting components of the NADPH oxidase enzyme complex, resulting in the inability of phagocytes to produce reactive oxygen species to kill certain bacteria and fungi. Patients present with recurrent infections of the lungs, skin, lymph nodes, liver or bones by catalase-positive organisms. Treatment involves lifelong antibiotic prophylaxis, with hematopoietic stem cell transplantation or gene therapy as curative options.
Autoinflammatory syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation without involvement of autoantibodies or abnormal T and B cells. They are caused by errors in the innate immune system and result in fever, joint pain, skin rashes, and abdominal pain. Some examples include familial Mediterranean fever, hyperimmunoglobin D syndrome, mevalonate kinase deficiency, and tumor necrosis factor receptor associated periodic syndrome. Genetic mutations can also cause specific autoinflammatory syndromes, such as Blau syndrome caused by a NOD2 gene mutation and Majeed syndrome caused by mutations in the LPIN2 gene.
This document discusses phagocytic dysfunction and chronic granulomatous disease. It describes the different types of phagocytes, including professional phagocytes like macrophages, neutrophils, and dendritic cells. It explains the role of opsonins and receptors in phagocytosis. Chronic granulomatous disease is described as a defect in the NADPH oxidase complex resulting in impaired oxidative burst and increased susceptibility to catalase-positive bacteria. Diagnosis can be made through tests like the nitroblue tetrazolium reduction test or dihydrorhodamine flow cytometry.
Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia, poor response to vaccination, and increased susceptibility to infection. It is the most common symptomatic antibody deficiency disorder. The pathogenesis of CVID involves defects in B cell differentiation and antibody production that can be caused by genetic mutations affecting surface molecules, cytosolic proteins, or nuclear factors involved in B cell development and antibody class switching. While most cases of CVID are sporadic, about 5-25% show familial inheritance in an autosomal dominant pattern.
Common variable immunodeficiency is characterized by low levels of immunoglobulins and recurrent sinopulmonary infections. It is usually diagnosed in the second or third decade of life. Complications include autoimmune diseases, gastrointestinal problems, malignancies, and neurodegenerative disorders. Treatment involves immunoglobulin replacement therapy and monitoring for pulmonary damage and infections. Prognosis is generally good with immune globulin therapy, though those diagnosed after irreversible lung disease develop a shorter lifespan.
This document discusses the approach to diagnosing and treating histiocytosis syndromes in childhood. It is a diverse group of disorders involving an abnormal proliferation of histiocytes (monocyte-macrophage cells). The main types discussed are Langerhans cell histiocytosis (LCH), hemophagocytic lymphohistiocytosis (HLH), and reactive histiocytosis. LCH is characterized by Langerhans cells with Birbeck granules, while HLH involves an uncontrolled activation of macrophages and T-cells. Diagnosis involves biopsy and immunochemistry. Treatment depends on risk stratification and number of organ systems involved, ranging from monitoring to chemotherapy. Long-term follow-up is important due to the disease
Common Variable Immunodeficiency (CVID) is a heterogeneous group of disorders characterized by low levels of immunoglobulins and recurrent bacterial infections. It is defined as a marked decrease in IgG and IgA or IgM, onset after age 2, poor response to vaccines, and exclusion of other causes. CVID can cause lung disease including bronchiectasis and granulomatous lymphocytic interstitial lung disease (GLILD), as well as diffuse granulomatous involvement of organs. Management involves immunoglobulin replacement therapy, treatment of infections, and immunosuppressants like corticosteroids for lung involvement. Genetic factors contribute to some cases but most have no identified genetic cause.
Henoch–Schönlein purpura (HSP) is the most common vasculitis of childhood that presents with a tetrad of purpura, arthritis/arthralgia, abdominal pain, and renal involvement. It is characterized by IgA-containing immune complexes depositing in small vessels, skin, GI tract, joints, and kidneys. The diagnosis is based on purpura with lower limb predominance and at least one of the other criteria. Imaging and labs help assess organ involvement while biopsy confirms the diagnosis.
This document provides an overview of hemophagocytic lymphohistiocytosis (HLH). It begins by introducing HLH and describing its characteristics such as fever, hepatosplenomegaly, and cytopenias. It then discusses the classification of primary and secondary HLH, epidemiology, genetic causes, clinical features, diagnostic guidelines, treatment protocols, and long-term follow up recommendations. For the patient presented, the document recommends following the HLH-2004 treatment protocol initially and considering continuation therapy or stem cell transplant depending on the disease response and severity.
This document outlines hypersensitivity pneumonitis (HP), beginning with its historical perspective of being first described in farmers exposed to moldy grains in the early 1900s. It then discusses the epidemiology, finding HP prevalence is less than 2% and most common causes are exposure to avian proteins. The pathogenesis involves an abnormal immune response to inhaled antigens like organic materials from birds or fungi. Clinical findings are described for acute, subacute and chronic HP, with acute presenting with flu-like symptoms and subacute/chronic showing interstitial lung disease on imaging and pulmonary function tests.
Selective IgA deficiency is the most common primary antibody deficiency, where there is an absence of IgA antibodies in the blood and secretions. IgA antibodies help protect mucosal surfaces from infection. While most people with selective IgA deficiency are asymptomatic, some experience recurrent sinopulmonary or gastrointestinal infections. The condition is diagnosed through blood tests showing low or absent IgA levels alongside normal levels of other antibodies. Treatment focuses on preventing infections and managing any associated conditions. The prognosis is generally good, though there is a small risk of developing other immune deficiencies.
Non-resolving pneumonia can have several causes, including misdiagnosis of the pathogen, host factors like comorbidities or immune deficiencies, or development of complications from the initial infection. Normal resolution of pneumonia involves improvement within 3-5 days, while slow resolution may take over a month. Factors like age, severity of illness, and the infectious agent can impact the rate of resolution. Evaluation of non-resolving cases should consider multidrug-resistant bacteria, non-bacterial pathogens, underlying host conditions, or non-infectious mimickers of pneumonia.
This document discusses antineutrophil cytoplasmic antibodies (ANCA). It notes that ANCA are autoantibodies related to inflammatory disorders and were first associated with Wegener's granulomatosis in 1985. The two main ANCA antigens are proteinase 3 and myeloperoxidase. ANCA testing can aid in diagnosing and monitoring ANCA-associated vasculitis conditions. However, increasing ANCA titers do not reliably predict disease relapses.
Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes cannot kill ingested bacteria and fungi, leading to recurrent infections. It is caused by mutations affecting the NADPH oxidase enzyme complex needed for reactive oxygen species production. Patients experience severe lung, skin, and organ infections from catalase-positive microbes early in life. Diagnosis involves tests assessing reactive oxygen species levels. Treatment requires lifelong antibiotics, antifungals, immunoglobulin therapy, and stem cell transplantation.
MAPAS CONCEPTUALES DE FOTODERMATOSIS EN BASE A LIBRO TINCOPA-WONG, TRUJILLO, PERU
AUDIOLIBRO EN https://www.youtube.com/watch?v=YmzhFYjeW88&index=4&list=PLPvC6O51XGAEhVunFw-X_a640zqtxFCH6
Hyper IgM syndrome is caused by defects in class switch recombination that result in low IgG, IgA, and IgE levels but normal or elevated IgM. The main types are X-linked CD40 ligand deficiency and autosomal recessive deficiencies in CD40, activation-induced cytidine deaminase, and uracil-N-glycosylase. These defects impair antibody-mediated immunity and predispose patients to recurrent bacterial infections as well as opportunistic infections. Patients may also experience autoimmunity, lymphoid hyperplasia, and other complications. Definitive diagnosis involves genetic and immunological testing.
El documento presenta dos casos clínicos de pacientes pediátricos con inmunodeficiencia primaria. El primer caso es un lactante de 7 semanas con dermatitis, neumonía bilateral y sepsis que finalmente fue diagnosticado con agammaglobulinemia ligada al X. El segundo caso es un niño de 22 meses con dermatitis, candidiasis y neumonías recurrentes cuya orientación diagnóstica apunta al síndrome de Omenn. Ambos pacientes requirieron ingresos repetidos y tratamiento con inmunoglobulina humana.
This document discusses masquerade syndromes in allergic diseases. It describes how primary immunodeficiencies (PIDs) can often present with symptoms that mimic common allergic conditions like eczema. Two examples of PIDs that frequently masquerade as allergies are discussed in detail - Omenn syndrome, a rare form of severe combined immunodeficiency that typically appears in infancy as erythroderma and diarrhea; and IPEX syndrome, an X-linked condition causing diarrhea, polyendocrinopathy, and fatal infections in male infants. The document emphasizes that a PID should be considered for patients with allergic-like symptoms that are treatment-resistant or associated with unusual clinical features.
Approach to the child with immune based and allergic diseaseKhaled Saad
This document discusses the approach to evaluating children presenting with recurrent infections. It outlines four main categories that such children can be grouped into: normal children, those with atopic disease, those with another chronic condition, and those with immunodeficiency. It provides details on the clinical features, investigations, and management considerations for each group. Initial screening tests are recommended for all children before considering further immunological evaluations if abnormalities are present or the clinical picture suggests immunodeficiency. Primary immunodeficiency should be considered for those with recurrent, complicated, or unusual infections.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
Fragile X syndrome is caused by a mutation on the X chromosome that results in failure to produce the fragile X mental retardation protein. It is characterized by a range of developmental problems including cognitive impairment and learning disabilities. Males tend to be more severely affected than females. The condition was first linked to the X chromosome in 1943 and the genetic basis involving expansion of the CGG trinucleotide repeat was discovered in the FMR1 gene in 1991. It is the most common known cause of inherited intellectual disability and a significant cause of autism.
Fragile X syndrome is a genetic disorder and the most common inherited form of intellectual disability. It is caused by a mutation on the X chromosome that results in failure to produce a protein called FMRP. Without this protein, synaptic connections in the brain are abnormal. Fragile X syndrome symptoms can include cognitive impairment, behavioral and learning challenges, and various physical characteristics. While there is no cure, treatment aims to manage symptoms through educational support, therapies, and medications. Research continues on developing targeted drug therapies to treat the underlying condition.
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Anaphylaxis is a severe, life-threatening reaction that can affect multiple body systems. It is diagnosed based on criteria involving symptoms of the skin, respiratory tract, gastrointestinal tract, and cardiovascular system. Incidence has increased in recent decades and common triggers include antibiotics, latex, hymenoptera stings, foods and intravenous agents. Pathways involve IgE-mediated and non-IgE mediated mechanisms. Signs and symptoms range from mild to severe and treatment involves epinephrine and monitoring for potential biphasic reactions. Differential diagnoses include other causes of low blood pressure, flushing syndromes, and 'restaurant syndromes'.
This document discusses anaphylaxis, a severe and potentially life-threatening allergic reaction. It defines anaphylaxis and explains that it is a type 1 hypersensitivity reaction caused by the immune system overreacting to harmless substances. Symptoms can affect multiple body systems like the skin, respiratory and digestive systems. Prompt treatment with epinephrine and other emergency measures is needed. Prevention involves avoiding triggers and carrying epinephrine auto-injectors if at risk.
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
Anaphylaxis is a severe allergic reaction that can be life-threatening. It requires rapid identification, assessment, and on-scene management including epinephrine, oxygen, IV fluids, and transport to the emergency department. Proper treatment of anaphylaxis in the pre-hospital setting is vital to ensure positive patient outcomes.
DNA fingerprinting is a method of identifying individuals based on unique characteristics in their DNA. Alec Jeffreys developed this method in the 1980s to solve criminal cases using DNA profiling techniques. Modern DNA profiling uses short tandem repeats that are variable between individuals and can be used to determine biological relationships in forensic investigations and parental testing. DNA profiling analysis involves extracting DNA from samples, amplifying targeted regions, separating the fragments by size, and comparing the profiles to determine matches or exclusions.
DNA fingerprinting is a technique used to identify individuals by analyzing their DNA. It involves isolating DNA from a sample, cutting the DNA into pieces of varying lengths, sorting the pieces by size, and then probing the DNA to create a unique pattern - the DNA fingerprint - that can be used to identify an individual. DNA fingerprinting has applications in diagnosing inherited disorders, linking suspects to biological evidence in criminal cases, and personal identification such as paternity tests.
To watch my animated viedo on YouTube visit
http://www.youtube.com/watch?v=nVHDGWfQhSU
To download my animated presentation visit:
https://www.dropbox.com/s/bbtayufrn1clnvh/Anaphylaxis.pptx
DNA profiling is a technique used by scientists to distinguish between individuals using samples of their DNA. Alec Jeffreys invented the process of DNA fingerprinting at the University of Leicester in 1985. The process involves extracting DNA from samples, cutting the DNA into fragments using restriction enzymes, separating the fragments by size using gel electrophoresis, and analyzing the pattern of fragment distribution to obtain a unique DNA profile. DNA profiling can be used to solve crimes by comparing DNA samples from a crime scene to suspects, and to solve medical problems like determining parentage in inheritance cases.
Leptospirosis is a bacterial disease that affects humans and animals. It is caused by bacteria of the genus Leptospira. In humans, it can cause a wide range of symptoms, some of which may be mistaken for other diseases. Some infected persons, however, may have no symptoms at all.
1. The patient presented with an 8-day fever, headache, asthenia, cough, and generalized arthralgias. Exam found pallor, facial and leg edema, conjunctival jaundice, and tender hepatosplenomegaly.
2. Tests showed pancytopenia, elevated liver enzymes and ferritin, and imaging found bilateral interstitial infiltrates. Serology was positive for Coxiella burnetii phase I antibodies.
3. The diagnosis was considered to be Q fever with a hemophagocytic syndrome. Treatment with doxycycline and steroids was started, with improvement of symptoms and laboratory abnormalities. Rarely, Q fever can
abscess advanced trauma life support anterior open bite antibiotics braces csf leaks dental diseases doxycycline dr dr shabeel drshabeel’s face eye trauma gingival infection medical medicine periodontal gum surgery pharmacy pn
New ulmonary arterial hypertension in rheumatic diseases 財團法人風濕病基金會台灣抗風濕病聯盟
This document summarizes a presentation on pulmonary artery hypertension (PAH) in rheumatic diseases. It begins with a case presentation of a patient diagnosed with limited systemic sclerosis and PAH who was treated with various medications. It then provides background on PAH classification and the pathophysiology of PAH in connective tissue diseases. Specifically, it discusses the prevalence of PAH in different rheumatic diseases like systemic sclerosis, the mechanisms involved in pathogenesis, and differences in phenotypes between SSc-PAH and non-SSc PAH. Treatment approaches are also summarized.
Pulmonary sarcoidosis is a multisystem inflammatory disease of unknown etiology characterized by non-caseating granulomas. It most commonly affects the lungs, skin, eyes and lymph nodes. The pathogenesis involves accumulation of inflammatory cells and T lymphocytes forming granulomas that can damage tissues. Diagnosis is based on clinical features, radiological evidence of non-caseating granulomas on biopsy with other causes excluded. Treatment depends on severity and organ involvement but may include corticosteroids.
A 28-year-old man presented with exertional dyspnea, fatigability, and palpitations for 2 months. He has a history of polio-myelitis from childhood resulting in left leg weakness. Examination found scoliosis, pulmonary hypertension, and right heart strain. Investigations including echocardiogram, CT, and PFTs confirmed severe pulmonary hypertension likely due to restrictive lung disease from scoliosis post-polio paralysis. The patient was diagnosed with cor pulmonale due to pulmonary hypertension from restrictive lung disease.
The patient presented with 2 months of fever, weight loss, and left upper abdominal discomfort. Examination found pallor, splenomegaly, and investigations showed anemia and falling blood counts. FNAC of the spleen found granulomatous lesions with caseation suggestive of tuberculosis. The patient was diagnosed with splenic tuberculosis and started on anti-tuberculosis treatment, with resolution of symptoms.
1) A 55-year-old diabetic female presented to the emergency room complaining of epigastric pain and vomiting for 12 hours. Laboratory and imaging findings confirmed acute pancreatitis.
2) Her condition deteriorated rapidly and she developed septic shock, requiring intensive care unit admission, mechanical ventilation, vasopressors, and renal replacement therapy.
3) Despite aggressive management, her condition continued to worsen. She became hypoxic, hypotensive, and acidotic, and suffered cardiac arrest. Resuscitation efforts were unsuccessful and she did not survive.
A 42-year-old male PLHIV patient presented with paraplegia, fever, and weakness in the lower limbs for 2 months. Examination revealed decreased sensations and power below the umbilicus. Investigations showed disseminated tuberculosis, anemia, and high-grade non-Hodgkin's lymphoma (likely Burkitt's lymphoma). The patient had compressive myelopathy due to tuberculosis and lymphoma. He was started on chemotherapy but died during treatment due to complications.
This document summarizes the case of a 19-year old male patient who presented with breathlessness, fever, and pain and discoloration of the toes. After examination and investigation, he was diagnosed with reactivated central nervous system tuberculosis, rheumatoid-related interstitial lung disease, bronchiectasis, and secondary antiphospholipid syndrome. Antiphospholipid syndrome is an autoimmune condition characterized by vascular thrombosis and/or pregnancy complications associated with antiphospholipid antibodies. It can occur primarily or secondary to other autoimmune diseases.
This document provides an overview of pulmonary renal syndromes (PRS), which refers to the combination of diffuse alveolar hemorrhage and rapidly progressive glomerulonephritis. PRS can be caused by a variety of conditions and represents a major diagnostic and treatment challenge with mortality rates reaching 25-50% if not addressed early. The document discusses the classification, presentation, diagnostic workup, and management of PRS, and provides three case examples to illustrate the approach to diagnosis and treatment.
A 59-year-old Thai woman presented with weakness in her arms and legs over the past week. She had numbness that started in her right toes and progressed to involve her right leg up to the knee and left hand. She was diagnosed with inflamed nerves by a private hospital but showed no improvement with medication. Examination found weakness and impaired sensation in her extremities. Tests showed eosinophilia, positive P-ANCA, and nerve biopsy demonstrated vasculitis. She was diagnosed with Churg-Strauss syndrome.
This medical record is for a 10-year-old male admitted with coma secondary to complicated pyogenic meningitis and clinical malaria. He presented with a 4-hour history of failure to communicate and had developed abnormal body movements, fever, and headache over the prior days. On examination he was comatose with normal vital signs. Laboratory tests showed normal CBC and imaging was not notable. He was diagnosed with coma secondary to complicated pyogenic meningitis and clinical malaria with moderate acute malnutrition. Treatment included antibiotics, antimalarials, anticonvulsants, and steroids to control seizures, eradicate infections, and decrease symptoms while monitoring for effectiveness and safety.
The patient, a 23-year-old male, presented with abdominal pain and was found to have palpable purpura on his lower extremities. He was initially diagnosed with acute appendicitis but developed a skin rash. Biopsy of the skin rash showed leukocytoclastic vasculitis. He was ultimately diagnosed with Henoch-Schonlein purpura (HSP), characterized by palpable purpura, arthritis/arthralgia, gastrointestinal involvement, and renal involvement. HSP is an immune complex-mediated vasculitis that commonly affects children and is generally self-limiting, though steroids may help with symptoms. Prognosis depends on factors like age of onset, severity
Case Study on Reteropositive with RF,LRTI,UTI and Sepsis .pptxKamaljeet ..
Case study on Reteropositive with LRTI with Respiratory Failure with UTI with SEPSIS
for Pharmacotherapeutics-II
Department of Pharmacy Practice
(PharmD)
This document describes the case of a 24-year-old intravenous drug user who presented with a 15-day history of fever, malaise, and shortness of breath for 7 days. On examination, he was found to be pale with a heart murmur. Investigations showed anemia, hepatitis C, and HIV positivity. Echocardiography revealed vegetation on the tricuspid valve. He was diagnosed with right-sided infective endocarditis and treated with antibiotics.
A 39-year-old man presented with cough, dyspnea, fever, and low back pain. Exams found rales in his lungs and normal neurological function. Tests revealed anemia and lymphopenia. Imaging showed bilateral lung infiltrates and lytic lesions in his spine. Bronchoalveolar lavage and sputum cultures grew Mycobacterium tuberculosis, confirming disseminated pulmonary TB with spinal and sacroiliac involvement. The patient was referred to the hospital and started on anti-TB treatment.
This document presents the case of a 70-year-old man who presented with progressive left greater than right sensorineural hearing loss and gait instability over 3-4 months. His medical history includes diabetes, hypertension, COPD, prostate cancer, and a total colectomy. Physical exam revealed horizontal nystagmus to the left, decreased hearing on the left, and an inability to perform tandem gait. MRI showed diffuse hyperintense nodular lesions involving the cerebellum, brainstem, and spine. The differential diagnosis discussed includes neurosarcoidosis, metastatic disease, primary CNS tumors such as glioma, and leptomeningeal metastases.
This document summarizes the medical records of a 32-year-old male patient admitted to the hospital with fever, headache, and altered sensorium. Brain imaging showed multiple lesions consistent with cerebral toxoplasmosis. The patient had a suppressed immune system due to HIV. He was diagnosed with HIV/AIDS complicated by cerebral toxoplasmosis based on clinical presentation, imaging and lab findings. He was started on cotrimoxazole and steroids, and showed improvement in symptoms within a week.
The document describes a case of a 55-year-old male patient presenting with breathlessness, palpitations, and fatigue for 1 year along with black sticky stools. Examinations revealed pallor and erythematous spots in the oral cavity. Investigations showed microcytic hypochromic anemia and occult blood in stool. Endoscopy revealed dilated vessels in the GI tract. CT angiogram showed abnormal vascular structures. The patient was diagnosed with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) based on the presence of epistaxis, telangiectasias, GI bleeding, and family history.
- Cat and dog allergens such as Fel d 1 and Can f 1 are major allergens found in fur, dander, and saliva that can become airborne and cause sensitization in a large percentage of allergic individuals.
- Lipocalins make up many mammalian allergens and show cross-reactivity between species due to structural similarities, explaining co-sensitizations between cats, dogs, horses, and other animals.
- Higher levels of IgE antibodies to specific dog lipocalins are associated with more severe asthma in children with dog allergy.
1) DRESS syndrome is a severe cutaneous drug reaction characterized by fever, lymphadenopathy, hematologic abnormalities, multisystem involvement, and viral reactivation. It has a delayed onset of 2-3 weeks after starting the culprit drug.
2) The skin manifestations are typically a polymorphous maculopapular eruption and facial edema. Systemic involvement can include the liver, kidneys, lungs and other organs.
3) Diagnosis is based on clinical criteria including the RegiSCAR scoring system which evaluates morphology, timing of onset, organ involvement, hematologic abnormalities and viral reactivation.
Wheat is one of the most important global food sources and wheat allergy prevalence varies from 0.4-4% depending on age and region. Several wheat proteins have been identified as major allergens, including omega-5-gliadin, alpha-amylase inhibitors, and glutenins. Studies have found that serum testing for IgE antibodies to specific wheat allergens, such as omega-5-gliadin, glutenins, and alpha-amylase inhibitors, can help diagnose wheat allergy and distinguish between mild and severe cases. Sensitization to different wheat allergens is associated with wheat-dependent exercise-induced anaphylaxis versus occupational baker's asthma. Proper diagnosis and
Major indoor allergens include dust mites, domestic animals like cats and dogs, insects like cockroaches, mice, and fungi. Dust mites thrive in warm, humid environments like mattresses, bedding, and upholstered furniture, where they feed on human skin scales and excrete allergenic fecal particles. Cat allergens like Fel d 1 accumulate in fur and can become airborne, causing worse asthma outcomes in sensitized individuals. Minimizing exposure involves removing carpets, frequent washing of bedding, humidity control, HEPA filtration and ventilation.
This document provides information on Hymenoptera, focusing on the families Apidae and Vespidae. It discusses the epidemiology and prevalence of insect venom allergy. It also covers the taxonomy, venom composition, and clinical manifestations of common stinging insects like honeybees, hornets, wasps and yellow jackets. Key allergens are identified for different species.
- NSAIDs hypersensitivity can present with distinct clinical phenotypes based on organ system involvement and timing of symptoms. It is estimated that less than 20% of reported adverse reactions to NSAIDs are true hypersensitivities.
- AERD/NERD involves eosinophilic rhinosinusitis, asthma, and nasal polyps. Exposure to aspirin or other NSAIDs exacerbates bronchospasms and rhinitis. Management involves lifelong avoidance of culprit and cross-reacting NSAIDs.
- Various phenotypes are described beyond the EAACI classification, including blended reactions involving multiple organs, food-dependent NSAID-induced anaphylaxis, and NSAID-selective immediate reactions. Proper diagnosis relies
The document discusses food immunotherapy for treating food allergies. It provides definitions and outlines immune mechanisms and efficacy evidence from studies on peanut, cow's milk, egg, and wheat oral immunotherapy (OIT). Peanut OIT studies showed 67-78% of children achieved desensitization and 21-46% achieved sustained unresponsiveness. Cow's milk and egg OIT also demonstrated desensitization in 50-75% of children. Wheat OIT studies found 52-69% achieved desensitization. OIT was effective at increasing tolerance but also increased rates of adverse events during treatment.
This document summarizes X-linked agammaglobulinemia (XLA), an inherited primary immunodeficiency caused by mutations in the Bruton's tyrosine kinase (Btk) gene. XLA is characterized by absent B cells and low immunoglobulin levels, leading to recurrent bacterial infections starting in infancy. Management involves immunoglobulin replacement and antibiotic therapy. With treatment, life expectancy has improved dramatically though complications can include lung disease. The document also briefly discusses other forms of agammaglobulinemia caused by defects in genes important for early B cell development.
This document discusses histamine and anti-histamines. It provides information on:
1. The structure and function of histamine and its receptors in immune response regulation. Histamine plays a role in processes like antigen presentation and influencing T and B cell responses.
2. The classification and structures of different types of anti-histamines, including first and second generation anti-histamines from different chemical classes.
3. Some anti-histamines have the potential to cause hypersensitivity in rare cases, even those from different chemical classes with no structural similarity.
The document discusses beta-lactam allergy, including penicillin and cephalosporin allergies. It covers the epidemiology, classifications, structures, mechanisms, and investigations of beta-lactam allergies. Specifically, it notes that penicillin is the most commonly reported antibiotic allergy. It describes the hapten concept of small molecules like beta-lactams binding covalently to proteins to form antigen complexes. Skin testing and in vitro tests are used to investigate immediate IgE-mediated allergies, while patch testing is used for delayed reactions.
This document provides an overview of intravenous immunoglobulin (IVIG) therapy. It discusses the structure and classes of immunoglobulins, mechanisms of action including neutralization, opsonization, and modulation of immune cells. It also covers the manufacturing process, pharmacokinetics, indications for use in primary immunodeficiencies and autoimmune diseases, dosing, administration, and adverse effects. The differences between IVIG products are also reviewed.
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In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
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Osteoporosis - Definition , Evaluation and Management .pdfJim Jacob Roy
Osteoporosis is an increasing cause of morbidity among the elderly.
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Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
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Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
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4.
PI : (
)
VS: BT 37.5 C,RR 80/min, PR 104/min, BP145/81
Oxygen Sat room air 94% ,
Lungs: Decreased breath sound LLL
CXR : Massive left pleural effusion with tracheal
shift to the right, single soft tissue mass at
right hilar region
5.
PI
14%
CBC: Hb 11 Hct 34 WBC 4140 N 79% L
BUN/Cr : 22/0.5
E’lyte : Na 134 K 4.4 Cl 94 CO2 20
Impression : Left empyema thoracis & right lung
abscess
Refer
7.
PH:
Drug allergy: Nystatin ( urticaria )
Fluconazole ( urticaria )
Ketoconazole ( urticaria)
Food allergy: Cow’s milk, egg, seafood, soy,
wheat accidental exposure
: On BF, Enfa ( flare up of AD,
Nutramigen ( at 9 mon )
Neocate ( 10 mon -3 y)
: Current foods; rice, chicken, pork, fish etc.
8.
PH: Past Infections
- At 2 m of age: Bacterial lymphadenitis
: Common cold q 1 m
: AD treated with Elidel, zyrtec
- At 2 y of age : Bacterial lymphadenitis
- At 4 y of age : Bacterial lymphadenitis
- At 7 y of age : Bacterial lymphadenitis &
multiple abscess at thigh
_ At 4 y
: Serum sIgE to foods ; class 3-4
9.
PH: History of AD treatment
1m
1y
- 5 m PTA
Erythromycin ( 2wk)
Prednisolone (5) 1*3 ( 6 wk)
2
- 2 m PTA
10.
Physical Examination:
- GA: A Thai boy, good consciousness, dyspnea,
no cyanosis
- VS : BT 37 c RR 60/min PR130/min BP 130/80
O2 sat 100% ( via mask with bag 6 L/min)
BW 30 kg ( P50)
- HEENT: mild pale conjunctiva, mild puffy
eyelid with eczema on face, broad nasal base,
no frontal bossing, LN impalpaple
- Lungs : suprasternal & subcostal retraction
decreased breath sound left side
11.
Physical Examination
Heart: normal s1 s2 , no murmur
Abdomen: soft, not tender,
no hepato-splenomegaly
Extremities: no deformities, no edema,
post inflammatory hyperpigmentation
both legs, clubbing of fingers
Skin: Dry, erythematous papule & scaly face , arms
& legs. Paronhychia
Neuro: intact
12.
13.
Problems:
1. Acute dyspnea with decreased
breath sound left lung
2. Recurrent bacterial lymphadenitis
3. Recurrent eczema
4. History of multiple foods allergy
5. History of multiple drugs allergy
6. Mild anemia
7. Mild puffy eye lids
8. Broad nasal base
9. Clubbing of fingers
10. Paronychia
24. Supportive Care:
- O2 via mask with bag
- ETT with ventilator support :
PC mode, Fio2 0.5, PIP 15, PEEP 5, Rate 20 Ti 1
ICD :
- For diagnosis
- For relieve symptom
25.
Empirical Antibiotics :
- Meropenam IV 60 MKD ( 17 d)
- Vancomycin IV 40 MKD ( 7 d)
- Augmentin 90 MKD continued
Fluid IV
Monitoring:
- VS
- O2 sat
- Blood gas
- ICD content & volume
- Intake/output
31. Tracheal suction Gram’s stain: gram positive
cocci in chain & cluster
Cultures :
- Pleural fluid: no growth after 48 hr
( aerobe & anaerobe)
- Hemo : no growth after 48 hr
- Urine : no growth
- Tracheal suction: no pathogenic organism
detected
ICD content: To identify bacteria by base sequencing
(pending)
32.
33. Dec 15, 2013
- Off ETT , on O2 mask with bag 10 LPM
- Subcutaneous emphysema, revised ICD
- Serum galacto-mannan sample index = 0.21 ( > 0.5)
Dec 18, 2013
- Clinical improved
Dec 23, 2013
- ICD content = 0 ml
Dec 24, 2013
- Off ICD
- Chest PT, Cliniflow
34.
-
Pleural fluid ( Dec 20, 2013)
- Content: Sero-purulent fluid
- Volume : 80 ml
- pH : 6.9
- RBC: 9382 cell/cumm
- WBC : 12422 cell/cumm ( N 48, M 19)
- Protein : 4.8 g/dl
- Sugar : 1 mg/dl
- LDH : 2090 U/L
Pleural fluid C.I.E. : Strep pneumoniae 100% by
NCBI Blast Search
Blood for PHA ( pending)
Pneumococcal titer Ab ( pending)
Anti HBs Ab: Negative ( > 10)
Fungal C/S : NG ( Dec, 12 )
Tip cath C/S : NG ( Dec, 24)
35.
36.
37.
No evidence of lung mass
Retained ICD at left pleural cavity
Small left lung volume with diffuse smooth
pleural thickening along lingular segment of
LUL & LLL ( could be from chronic infection or
inflammation)
Near total atelectasis of lingular segment
LUL, containing focal consolidation
Passive atelectasis & small amount of left
pleural effusion
38. Hyper IgE syndrome:
- A primary immunodeficiency marked by
abnormalities in the coordination of cell–cell
signaling with the potential to affect TH17 cell, B
cell, and neutrophil responses
- Clinical manifestations include recurrent skin
and lung infections, serum IgE elevation, connective
tissue repair and development alterations, &
vascular abnormalities & tumor development etc.
39.
Job’s syndrome: described in 1966
Reference to the Biblical Job who was “ smote
with sore boils”
Incidence in western countries
- 1/ 1 million
- Male: female 1:1
http:// orpha.net/consor
43.
Newborn rash on face & scalp ( pustular)
- Worsen by S.aureus
- After NB period, cutaneous abscess, mucocutaneous candidiasis,
infected dermatitis of axilla & groin etc.
Recurrent pneumonia in early childhood
- S. aureus is the commonest followed by Strep. pneumoniae, H. influenzae
- Purulent sputum, but lack of fever & systemic signs of inflammation
- Pneumatocele & bronchiectasis that accumulate aspergillosis &
gram negative bacteria
- Molds invade blood vessels & resulting to hemoptysis & disseminated
infection
-Other opportunistic infections; Pneumocystis jiroveci, histoplasmosis,
muco-cutaneous candidiasis
44.
Somatic Features:
- Face; asymmetry, broad fleshy nose, & porous
skin
- Neurological; Arnold-Chiari I malformation(20%
of cases), cranio-synostosis no surgery needed
- Bone; minimal trauma fractures, osteopenia,
hyper-extensibility, scoliosis & joint degeneration
47.
French cohort study :
- Necker Enfants Malades Hospital, Paris
- Detailed questionnaires completed by
physicians
- Clinical & labs collected from birth until
Feb 2011 or their death
- National Institutes of Health scoring system
- Score> 40 : likely to carry AD-HIES phenotype
- Score 20-40 : inconclusive
- Score < 20 : unlikely
48.
CBC; eosinophilia
Serum IgE ; high ( > 2,000 IU/ul) but normal
IgG, IgA, & IgM levels
Decreased memory T-cell
Vary in Ab response
Gene analysis
57.
Higher rate of viral infections ( M. contagiosum
H. simplex, V. zoster)
Higher food & environmental allergy
Higher otitis media & sinusitis
Higher mortality rate from sepsis
Higher neurological features: hemiplegia,
CNS vasculitis
Higher rate of malignancy: T-cell leukemialymphoma
Severe eczema, skin infection, pneumonia are
common but NO pneumatocele
58.
Rare features: typical face, bone abnormalities
Labs:
- Increased serum IgE, eosinophil
- Low absolute lymphocyte count, total T-cell
- Low CD4, CD8 count, normal CD4/CD8 ratio
- Decreased IgM, others vary
59.
60.
61. Only 2 cases reported (Turkish & Japanese)
No typical facial features, bone abnormalities
The Turkish patient had axillary lymphadenitis
from BCG & neuro-brucellosis after ingested
un-pasturized cheese, later developed brain
infarction
- The Japanese patient had dermatitis, skin infectios,
oral candidiasis, sinusitis, pneumonia, molluscum
contagiosum etc.
-
62.
63.
STAT 3 gene:
- Located on chromosome 17 q21
- Encodes a transcription factors
- Work in the process of STAT1, STAT4
- Translocate to nucleus
- Transcription >> affect to cytokines
64.
STATE 3 Gene:
- IL-6 family, IL-10 family, IL-12 family,IL-21
G-CSF, leptin
- Associated with G protein-coupled receptor
signaling
- Association with cellular homeostasis ( involve
mitochondrial regulation of reactive oxygen
species generation)
65.
STAT3 Function
- Intracellular cytokine receptor binds to one
of four JAK protein ( JAK 1,2,3 & Tyk2)
- Enhance STAT recruitment & phosphorylation
- Phosphorylated STAT dimerized by Src homology2
( SH2) domain >>> nucleus , then activate STATregulated genes
66.
67. Coiled-coil domain
- Interact with other protein
DNA-binding domain
- Transcriptional regulation
Src homology 2 ( SH2) domain
- STAT protein dimerization & receptor contact
Gene splice site/trans activation site
- Gene transcription
“Dominant negative mutation” contribute to
AD-HIES & decreased Th17 cell
JACI
68.
69.
STAT3 Function
- Clinical phenotypes of HIES :
-Excessive inflammation; prolonged inflammation
in lungs (pneumatocele)
- Inadequate inflammation; “cold” boils
70.
In vitro:
- Increased pro-inflammatory cytokines eg.
TNF-alpha, IFN-gamma, IL-12 after stimulated
by specific agonist
71.
72.
In mouse & human: STAT3 integrate to Th17 cell
differentiation & IL-17 production
In HIES: near total absence of Th17 cell & impaired
IL-17 resulting in
- Impair host defense through recruitment of neutrophil
- Impair up-regulation of antimicrobial peptide
- Prone to candida & Klebsiella infection
- Impaired beta-defensin production ( prone to
S. aureus infection)
73.
Why increased IgE in HIES
- Hypothesis: impaired IL-21 signaling since
IL-21 receptor knock out mice showed
increased IgE
74.
DOCK 8 Signaling:
- Located on chromosome 9p24
- Loss of DOCK8 protein function is the most
common form of AR-HIES
- Role of DOCK8 ; activate Rho GTPase that
affects to actin cytoskeletal rearrangement
75.
DOCK 8 Mutation:
- DOCK homology region 1 ( DHR1) domain
( for binding phosphatidylinositol3,4,5triphosphate membrane-rich region)
- DOCK homology region 2 ( DHR 2) domain
( for binding to Rho family GTPase)
76.
DOCK8 expressed in B,T cells
DOCK8 HIES : impair immunity along various
stages of B,T cells development
Decreased CD8 T cell stimulation
Decreased CD8 T cell clonal proliferation
Decreased CD8 memory T cell
77.
Tyk 2 located on chromosome 19p13.2
In a family of Janus kinase molecules
Roles:
- Transduces signal which transmitted from
type 1 IFN receptor, cytokine receptor
sharing IL-12RB1 subunit, cytokine receptor
sharing a gp 130 subunit & IL-13
78.
Tyk2 components:
1) FERM domain
( localizes protein to plasma membrane)
2) SH2 domain
( modulate regulation of intracellular signaling
cascade)
3) Kinase domain
( phosphorylate target protein )
79.
Homozygous deletion mutation:
- Impaired Th1 response, risk for mycobacteria
- Decreased IFN-gamma secretion by IL-12
stimulated splenocyte
- Impaired Th 17 response , risk for fungal
infection
81. STAT 3 mutation analysis is commercially available
By using “ high-resolution PCR-based DNA-melting
assays” to identify & screen patients
Quicker & cheaper than genome sequencing
The variant can be confirmed by targeted
sequencing analysis
No phenotype/genotype relationship among STAT3
mutation identified
For DOCK 8 & Tyk 2 mutation only available in special
research institute
82.
Supportive management
Adequate treatment in pneumonia
Bronchoscope yields for isolating microbe & removing
pus
Pneumatocele & bronchiectasis need broad spectrum
ABT to cover gram negative & fungi
Skin:
- Eczema care & staphylococcal prevention by bathing
in bleach or swimming in chlorinated swimming pools
83. Prophylaxis antibiotic
- Co-trimoxazole
- Penicillinase-resistant penicillin
- Cephalosporin
Case report:
- An-8-y-old boy
- Diagnosed as HIES
- Prophylaxis with cloxacillin 30 MKD and Isotretinoin
- Free from skin infection for 26 months
- After discontinue medication, re-infection with fever,
otitis externa & cellulitis
360
Archives of Medical Research 35 (2004) 359–
84.
IVIG :
- The most common immuno-modulator using
in HIES
- Decreased number of infection
IFN-gamma:
- Mixed results
Antihistamine –H2 & ciclosporin may help
BMT : AR-HIES with DOCK8 mutation cases
cured with hematopoietic cell transplantation
85.
IVIG: From French Study
- From 32/60 ( 54%) received 400-500 mg/kg q
3-4 wk by IV, some cases used 100 mg/kg SC q wk
- NIH score 40
- The mean age when initiation 14 y( range, 1-39 y)
- Comparing incidence of bacterial pneumonia:
- IVIG group; 9.3/100 pt/y
- Non- IVIG group ; 27.8/100 pt/y
86.
Based on recurrence of pyogenic bacterial
infection & memory B-cell lymphopenia
An accelerated decline of specific Ab titers after
initially normal primary Ab response &
lower than normal secondary Ab response
Clin Immunol 2008; 129:448-454
87.
Antifungal prophylaxis:
- In case of structural airway abnormalities
- Mechanism; local epithelial impairment after
recurrent bacterial pneumonia similar in cystic
fibrosis or post-tuberculosis cavities
- Prophylactic surgery
95.
A rare primary immunodeficiency marked by
abnormalities in the coordination of cell–cell
signaling with the potential to affect TH17
cell, B cell, and neutrophil responses
Clinical manifestations include recurrent skin
and lung infections, serum IgE
elevation, connective tissue repair and
development alterations
2 M: fever, I&D , admit 3 d, ABT 7d2 Y : I&D, ABT IV 4 Y : I&D, ABT IV 7 Y : I&D, ABT IV
Eo > 700 , aabnormal
IgE 29600 , 5 Y
Total IgE 296,000 IU/ml AT 5-y-old
Primary teeth = 10
Gene analysis not shown to be tested before, lost data
Massive lt pleural effusion, patchy infiltration rthilar region
Skin infection at scalp : bactroban bidTerramycin ointment bid at eyelids
NB rash : scraping show Eo, other signs ; heat, erythema, tenderness not found. Improved by oral ABT & dilute bleachHigh MB & MR from aspergillosis & gram neg ; Pseudomonas
Arnold-Chiari I: cerebella tonsils protrudes in foramen magnum Fracture & osteopenia found 50 %
sIgE gradually reduced in adoles but clinical persists