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IMMUNDEFICIENCY
DISEASES
DR.RAJESH KUMAR R S
INTRODUCTION
 Defence mechanism of the body impaired
 Repeated microbial infections
 Enhanced susceptibility to malignancy
 Specific – Humoral, Cell mediated
 Non specific – Phagocytosis and Complement
Immunodeficiency
Diseases
Primary: Abnormalities
in the development of
immune mechanisms
Secondary: Consequences of
disease, drug, nutritional
inadequacies
CLASSIFICATION OF PRIMARY
IMMUNODEFICIENCY SYNDROMES
 Humoral Immunodeficiencies
 Cellular Immunodeficiencies
 Combined Immunodeficiencies
 Disorders of Complement
 Disorders of Phagocytosis
HUMORAL IMMUNODEFICIENCIES (B
CELL DEFECTS)
 X linked agammaglobulinemia
 Transient hypogammaglobulinemia of infancy
 Common variable immunodeficiency
 Selective Immunoglobulin deficiency
 Immunodeficiencies with hyper – IgM
 Transcobalamin II Deficiecy
X LINKED AGAMMAGLOBULINEMIA
 Bruton’s disease
 Disease not apparent till 6 months of age
 Recurrent bacterial infection with Pneumococci, Streptococci,
Meningococci, Pseudomonas and H. influenza
 Patient respond normally to viral infections
 All classes of immunoglobulins are grossly depleted
 Tonsils and Adenoids are atrophic
 Depletion of cells in bursa depenent areas of Lymph nodes.
 Marked decrease of B cells in circulation
 Antibody formation does not occur even after injection of antigen
 CMI is not affected
 Allograft rejection is normal
 Arthritis, haemolytic anemia and atopic manifestations
 300 mg/Kg of Gamma globulin in 3 doses followed by monthly injections
of 100 mg/kg
 Whole Plasma infusion
TRANSIENT HYPOGAMMAGLOBULINEMIA OF
INFANCY
 Abnormal delay in Immunoglobulin G synthesis
 Maternal Ig G are catabolised by the second month.
 Recurrent Otitis media and Respiratory infections
 Spontaneous recovery occur between 18 and 30 months of age.
 Prophylaxis with Gamma globulin is not recommended
COMMON VARIABLE IMMUNODEFICIENCY
 Late onset Hypogammaglobulinemia
 15 – 35 years of age
 Recurrent pyogenic infection and increased incidence of autoimmune
disease.
 Malabsorption and Giardiasis
 The total immunoglobulin level is low
 Defective B cell in circulation
 Increased suppressor T cell and diminished helper T cell activity
SELECTIVE IMMUNOGLOBULIN
DEFICIENCIES
 Reported in 1% of all patients with recurrent infection
 Isolated Ig A deficiency reported in 0.2% of normal population
 Increased susceptibility to respiratory infections
 Steatorrhea
 Atopic disorders
 Anti IgA antibodies present
 Preventive antibiotics
 Selective Ig M deficiency associated with Septicemia
IMMUNODEFICIENCIES WITH HYPER
IgM
 X linked
 Autosomal recessive
 Low Ig A and Ig G levels are seen with elevated Ig M
 Infections
 Thrombocytopenia, Neutropenia, Hemolytic anemia and renal lesions
 Congenital Rubella
 Intravenous Immunoglobulin therapy
TRANSCOBALAMIN II DEFICIENCY
 Autosomal recessive
 Megaloblastic anemia
 Intestinal Villous Atrophy
 Depleted plasma cells
 Diminished immunoglobulin levels
 Impaired phagocytosis
 VITAMIN B12 treatment
CELLULAR IMMUNODEFICIENCIES (T
CELL DEFECTS)
 Thymic hypoplasia
 Chronic mucocutaneous candidiaisis
 Purine Nucleoside Phosphorylase deficiecy
THYMIC HYPOPLASIA (DIGEORGE
SYNDROME)
 Developmental defect
 Aplasia or Hypoplasia of the thymus and Parathyroid gland
 Not hereditary
 Intrauterine infection
 Fallot’s tetrology
 Neonatal tetany
 viral, fungal and bacterial infection
DIGEORGE SYNDROME
 The thymus dependent areas of the lymph node and spleen are depleted
of lymphocytes
 Circulating T cells are reduced in number
 Delayed hypersensitivity and graft rejection are depressed
 Transplantion of fetal thymus tissue
CHRONIC MUCOCUTANEOUS
CANDIDIASIS
 Abnormal immunological response to Candida albicans
 Severe Chronic Candidiasis of mucosa, skin and nails
 Endocrinopathies
 CMI to candida is deficient
 Transfer factor + Amphotericin B
PURINE NUCLEOSIDE
PHOSPHORYLASE DEFICIENCY
 PNP degrades Purines to Hypoxanthine and finally to uric acid
 Increased dGTP levels
 Hypoplastic anemia
 Recurrent Pneumonia
 Diarrhea
 Candidiasis
 Low serum uric acid helps in diagnosis
 Allogenic Hematopoietic Stem Cell Transplantation
COMBINED IMMUNODEFICIENCIES
 Nezelof syndrome
 Ataxia Telengiectasia
 Wiskott Aldrich Syndrome
 Immunodeficiency with Thymoma
 Episodic lymphopenia with lymphocytotoxin
 Severe combined immunodeficiencies
COMBINED IMMUNDEFICIENCIES
 Nezelof Syndrome
 Ataxia telangiectasia
 Wiskott Aldrich Syndrome
 Immunodeficiency with thymoma
 Immunodeficiency with short limbed dwarfism
 Episodic lymphopenia with Lymphocytotoxin
 Severe combined immunodeficies
NEZELOF SYNDROME
 Cellular immunodeficiency with abnormal immunoglobulin synthesis
 Recurrent infections
 Abundant plasma cells are seen in the spleen, lymph nodes and intestines
 Thymic dysplasia with lymphoid depletion
 Antigenic stimuli do not induce antibody formation
 Histocompatible bone marrow transplant, transfer factor & Thymus
transplantation
 Antimicrobial therapy
ATAXIA TELANGIECTASIA
 Autosomal recessive
 Cerebellar ataxia
 Chorioatethoid movements
 Telengiectasia
 Ovarian dysgenesis
 Sinopulmonary infection & malignancy
 Absence of IgA & low IgE
 Transfer factor therapy and fetal thymus transplants
WISKOTT ALDRICH SYNDROME
 X linked disease
 Eczema, thrombocytopenic purpura, recurrent infections
 Death due to infection, hemorrhage, lymphoreticular malignancy
 Cellular depletion of thymus and paracortical areas of lymph nodes
 Low IgM levels
 Specific inability to respond to polysaccharide antigen
ECZEMA THROMBOCYTOPENIC PURPURA
IMMUNODEFICIENCY WITH
THYMOMA
 Adults
 Benign thymic tumour
 Impaired cell mediated immunity
 Agammaglobulinemia
 Aplastic anemia
EPISODIC LYMPHOPENIA WITH
LYMPHOCYTOTOXIN
 Episodic but profound depression of T cell function
 Complement dependent Lymphocytotoxin
 Anti lymphocyte antibody
 No immunological memory
 familial
SEVERE COMBINED IMMUNODEFICIENCIES
 Autosomal recessive
 Primary defects are at the level of early precursors of immunocompetent
cells in the fetal liver and bone marrow
 Swiss type agammaglobulinemia
 Reticular dysgenesis of de Vaal
 Adenosine deaminase deficiency
RETICULAR DYSGENESIS OF DE VAAL
 Multipotent hemopoietic stem cell
 Total failure of myelopoiesis
 Lymphopenia, neutropenia, thrombocytopenia, anemia and bone marrow
aplasia
 Invariably fatal in the first week of life
DISORDERS OF PHAGOCYTOSIS
 Chronic Granulomatous Disease
 Myeloperoxidase deficiency
 Chediak Higashi Syndrome
 Leukocyte G6PD deficiency
 Job’s syndrome
DISORDERS OF PHAGOCYTOSIS
 Tuftsin deficiency
 Lazy Leukocyte Syndrome
 Hyper- IgE syndrome
 Actin Binding Protein Deficiency
 Shwachman’s disease
Chronic Granulomatous Disease
 Familial disease
 Recurrent infection with low grade pathogen (catalase +)
 Suppurative granulomatous lesions in skin and lymph nodes
 Hepatospleenomegaly
 Progressive infiltration in lungs
 Granulomatous Septic Osteomyelitis
Chronic Granulomatous Disease
 NADPH Oxidase
 Engulfment of bacteria is not followed by activation of oxygen dependent
killing mechanisms
 Nitroblue tetrazolium test
CHEDIAK HIGASHI SYNDROME
 Genetic disorder
 Decreased pigmentation of the skin, eyes and hair
 Photophobia
 Nystagmus
 Giant peroxidase positive inclusions in the cytoplasm of leukocytes due to
autophagocytic activity
 Diminished phagocytic activity
 Frequent and severe pyogenic infections
CHEDIAK HIGASHI SYNDROME
JOB’S SYNDROME
 Multiple large Staphylococcal abscesses occurring repeatedly on the skin
and in various organs with little inflammatory response
 Atopic Eczema, Chronic Nasal discharge and Otitis media
 Elevated IgE
TUFTSIN DEFICIENCY
 Leukokinin capable of stimulating phagocytosis
 Tetrapeptide
 Local and systemic bacterial infections
LAZY LEUKOCYTE SYNDROME
 Defect in chemotaxis and neutrophil mobility
 Normal number of Neutrophils in Bone Marrow
 Peripheral neutropenia
 Poor leukocyte response to chemical and inflammatory stimulation
 Bacterial infection
 Recurrent stomatitis, Gingivitis and Otitis
HYPER IgE SYNDROME
 Early onset Eczema
 Recurrent bacterial infections such as abscess, Pneumonia and secondary
infections of Eczema
 Staphylococcus aureus
 Streptococcus pyogenes
 IgE levels are more than 10 times the normal level
SHWACHMAN’S DISEASE
Infection
Pancreatitis
Decreased Neutrophil
mobility
Bone abnormalities
SECONDARY IMMUNODEFICIENCIES
 Malnutrition
 Malignancy
 Infection
 Metabolic disorders
 Cytotoxic drugs
 Humoral and cell mediated immune deficiency
HUMORAL DEFICIENCY
 Chronic lymphatic leukemia
 Nephrotic Syndrome
 Exfoliative Skin disease
 Protein losing Enteropathies
 Multiple Myeloma
CELL MEDIATED IMMUNE DEFICIENCY
 Hodgkin’s disease
 Obstruction in lymph circulation
 Lepromatous leprosy
 Measles
CLINICAL CASE
 A nine month old infant was brought to the hospital with symptoms of
fever and difficulty in breathing. The mother reported of two similar
episodes in the previous two months. At the age of 12 months, the child
was again brought in with an episode of measles, from which he recovered
after treatment. At 18 months of age, it was observed that the boy’s height
and weight were not appropriate to his age. The child was the fourth of
unrelated parents. His 3 sisters enjoyed good health and the parents did
not report of them suffering from any repeated infections, unlike the boy.
 Tests on the boy showed the serum immunoglobulin G to be less than a
tenth and IgA and IgM to be less than a hundredth of the normal level.
Lymph node biopsy revealed depletion of cells of bursa dependent areas.
 Diagnosis?
 Treatment?
THANK YOU

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immundeficiencydiseases-160925065412.pdf

  • 2. INTRODUCTION  Defence mechanism of the body impaired  Repeated microbial infections  Enhanced susceptibility to malignancy  Specific – Humoral, Cell mediated  Non specific – Phagocytosis and Complement
  • 3. Immunodeficiency Diseases Primary: Abnormalities in the development of immune mechanisms Secondary: Consequences of disease, drug, nutritional inadequacies
  • 4. CLASSIFICATION OF PRIMARY IMMUNODEFICIENCY SYNDROMES  Humoral Immunodeficiencies  Cellular Immunodeficiencies  Combined Immunodeficiencies  Disorders of Complement  Disorders of Phagocytosis
  • 5. HUMORAL IMMUNODEFICIENCIES (B CELL DEFECTS)  X linked agammaglobulinemia  Transient hypogammaglobulinemia of infancy  Common variable immunodeficiency  Selective Immunoglobulin deficiency  Immunodeficiencies with hyper – IgM  Transcobalamin II Deficiecy
  • 6. X LINKED AGAMMAGLOBULINEMIA  Bruton’s disease  Disease not apparent till 6 months of age  Recurrent bacterial infection with Pneumococci, Streptococci, Meningococci, Pseudomonas and H. influenza  Patient respond normally to viral infections  All classes of immunoglobulins are grossly depleted  Tonsils and Adenoids are atrophic  Depletion of cells in bursa depenent areas of Lymph nodes.
  • 7.  Marked decrease of B cells in circulation  Antibody formation does not occur even after injection of antigen  CMI is not affected  Allograft rejection is normal  Arthritis, haemolytic anemia and atopic manifestations  300 mg/Kg of Gamma globulin in 3 doses followed by monthly injections of 100 mg/kg  Whole Plasma infusion
  • 8. TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY  Abnormal delay in Immunoglobulin G synthesis  Maternal Ig G are catabolised by the second month.  Recurrent Otitis media and Respiratory infections  Spontaneous recovery occur between 18 and 30 months of age.  Prophylaxis with Gamma globulin is not recommended
  • 9. COMMON VARIABLE IMMUNODEFICIENCY  Late onset Hypogammaglobulinemia  15 – 35 years of age  Recurrent pyogenic infection and increased incidence of autoimmune disease.  Malabsorption and Giardiasis  The total immunoglobulin level is low  Defective B cell in circulation  Increased suppressor T cell and diminished helper T cell activity
  • 10. SELECTIVE IMMUNOGLOBULIN DEFICIENCIES  Reported in 1% of all patients with recurrent infection  Isolated Ig A deficiency reported in 0.2% of normal population  Increased susceptibility to respiratory infections  Steatorrhea  Atopic disorders  Anti IgA antibodies present  Preventive antibiotics  Selective Ig M deficiency associated with Septicemia
  • 11. IMMUNODEFICIENCIES WITH HYPER IgM  X linked  Autosomal recessive  Low Ig A and Ig G levels are seen with elevated Ig M  Infections  Thrombocytopenia, Neutropenia, Hemolytic anemia and renal lesions  Congenital Rubella  Intravenous Immunoglobulin therapy
  • 12. TRANSCOBALAMIN II DEFICIENCY  Autosomal recessive  Megaloblastic anemia  Intestinal Villous Atrophy  Depleted plasma cells  Diminished immunoglobulin levels  Impaired phagocytosis  VITAMIN B12 treatment
  • 13. CELLULAR IMMUNODEFICIENCIES (T CELL DEFECTS)  Thymic hypoplasia  Chronic mucocutaneous candidiaisis  Purine Nucleoside Phosphorylase deficiecy
  • 14. THYMIC HYPOPLASIA (DIGEORGE SYNDROME)  Developmental defect  Aplasia or Hypoplasia of the thymus and Parathyroid gland  Not hereditary  Intrauterine infection  Fallot’s tetrology  Neonatal tetany  viral, fungal and bacterial infection
  • 15. DIGEORGE SYNDROME  The thymus dependent areas of the lymph node and spleen are depleted of lymphocytes  Circulating T cells are reduced in number  Delayed hypersensitivity and graft rejection are depressed  Transplantion of fetal thymus tissue
  • 16. CHRONIC MUCOCUTANEOUS CANDIDIASIS  Abnormal immunological response to Candida albicans  Severe Chronic Candidiasis of mucosa, skin and nails  Endocrinopathies  CMI to candida is deficient  Transfer factor + Amphotericin B
  • 17. PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY  PNP degrades Purines to Hypoxanthine and finally to uric acid  Increased dGTP levels  Hypoplastic anemia  Recurrent Pneumonia  Diarrhea  Candidiasis  Low serum uric acid helps in diagnosis  Allogenic Hematopoietic Stem Cell Transplantation
  • 18. COMBINED IMMUNODEFICIENCIES  Nezelof syndrome  Ataxia Telengiectasia  Wiskott Aldrich Syndrome  Immunodeficiency with Thymoma  Episodic lymphopenia with lymphocytotoxin  Severe combined immunodeficiencies
  • 19. COMBINED IMMUNDEFICIENCIES  Nezelof Syndrome  Ataxia telangiectasia  Wiskott Aldrich Syndrome  Immunodeficiency with thymoma  Immunodeficiency with short limbed dwarfism  Episodic lymphopenia with Lymphocytotoxin  Severe combined immunodeficies
  • 20. NEZELOF SYNDROME  Cellular immunodeficiency with abnormal immunoglobulin synthesis  Recurrent infections  Abundant plasma cells are seen in the spleen, lymph nodes and intestines  Thymic dysplasia with lymphoid depletion  Antigenic stimuli do not induce antibody formation  Histocompatible bone marrow transplant, transfer factor & Thymus transplantation  Antimicrobial therapy
  • 21. ATAXIA TELANGIECTASIA  Autosomal recessive  Cerebellar ataxia  Chorioatethoid movements  Telengiectasia  Ovarian dysgenesis  Sinopulmonary infection & malignancy  Absence of IgA & low IgE  Transfer factor therapy and fetal thymus transplants
  • 22.
  • 23. WISKOTT ALDRICH SYNDROME  X linked disease  Eczema, thrombocytopenic purpura, recurrent infections  Death due to infection, hemorrhage, lymphoreticular malignancy  Cellular depletion of thymus and paracortical areas of lymph nodes  Low IgM levels  Specific inability to respond to polysaccharide antigen
  • 25. IMMUNODEFICIENCY WITH THYMOMA  Adults  Benign thymic tumour  Impaired cell mediated immunity  Agammaglobulinemia  Aplastic anemia
  • 26. EPISODIC LYMPHOPENIA WITH LYMPHOCYTOTOXIN  Episodic but profound depression of T cell function  Complement dependent Lymphocytotoxin  Anti lymphocyte antibody  No immunological memory  familial
  • 27. SEVERE COMBINED IMMUNODEFICIENCIES  Autosomal recessive  Primary defects are at the level of early precursors of immunocompetent cells in the fetal liver and bone marrow  Swiss type agammaglobulinemia  Reticular dysgenesis of de Vaal  Adenosine deaminase deficiency
  • 28. RETICULAR DYSGENESIS OF DE VAAL  Multipotent hemopoietic stem cell  Total failure of myelopoiesis  Lymphopenia, neutropenia, thrombocytopenia, anemia and bone marrow aplasia  Invariably fatal in the first week of life
  • 29. DISORDERS OF PHAGOCYTOSIS  Chronic Granulomatous Disease  Myeloperoxidase deficiency  Chediak Higashi Syndrome  Leukocyte G6PD deficiency  Job’s syndrome
  • 30. DISORDERS OF PHAGOCYTOSIS  Tuftsin deficiency  Lazy Leukocyte Syndrome  Hyper- IgE syndrome  Actin Binding Protein Deficiency  Shwachman’s disease
  • 31. Chronic Granulomatous Disease  Familial disease  Recurrent infection with low grade pathogen (catalase +)  Suppurative granulomatous lesions in skin and lymph nodes  Hepatospleenomegaly  Progressive infiltration in lungs  Granulomatous Septic Osteomyelitis
  • 32. Chronic Granulomatous Disease  NADPH Oxidase  Engulfment of bacteria is not followed by activation of oxygen dependent killing mechanisms  Nitroblue tetrazolium test
  • 33. CHEDIAK HIGASHI SYNDROME  Genetic disorder  Decreased pigmentation of the skin, eyes and hair  Photophobia  Nystagmus  Giant peroxidase positive inclusions in the cytoplasm of leukocytes due to autophagocytic activity  Diminished phagocytic activity  Frequent and severe pyogenic infections
  • 35. JOB’S SYNDROME  Multiple large Staphylococcal abscesses occurring repeatedly on the skin and in various organs with little inflammatory response  Atopic Eczema, Chronic Nasal discharge and Otitis media  Elevated IgE
  • 36. TUFTSIN DEFICIENCY  Leukokinin capable of stimulating phagocytosis  Tetrapeptide  Local and systemic bacterial infections
  • 37. LAZY LEUKOCYTE SYNDROME  Defect in chemotaxis and neutrophil mobility  Normal number of Neutrophils in Bone Marrow  Peripheral neutropenia  Poor leukocyte response to chemical and inflammatory stimulation  Bacterial infection  Recurrent stomatitis, Gingivitis and Otitis
  • 38. HYPER IgE SYNDROME  Early onset Eczema  Recurrent bacterial infections such as abscess, Pneumonia and secondary infections of Eczema  Staphylococcus aureus  Streptococcus pyogenes  IgE levels are more than 10 times the normal level
  • 40. SECONDARY IMMUNODEFICIENCIES  Malnutrition  Malignancy  Infection  Metabolic disorders  Cytotoxic drugs  Humoral and cell mediated immune deficiency
  • 41. HUMORAL DEFICIENCY  Chronic lymphatic leukemia  Nephrotic Syndrome  Exfoliative Skin disease  Protein losing Enteropathies  Multiple Myeloma
  • 42. CELL MEDIATED IMMUNE DEFICIENCY  Hodgkin’s disease  Obstruction in lymph circulation  Lepromatous leprosy  Measles
  • 43. CLINICAL CASE  A nine month old infant was brought to the hospital with symptoms of fever and difficulty in breathing. The mother reported of two similar episodes in the previous two months. At the age of 12 months, the child was again brought in with an episode of measles, from which he recovered after treatment. At 18 months of age, it was observed that the boy’s height and weight were not appropriate to his age. The child was the fourth of unrelated parents. His 3 sisters enjoyed good health and the parents did not report of them suffering from any repeated infections, unlike the boy.
  • 44.  Tests on the boy showed the serum immunoglobulin G to be less than a tenth and IgA and IgM to be less than a hundredth of the normal level. Lymph node biopsy revealed depletion of cells of bursa dependent areas.  Diagnosis?  Treatment?