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Immunodeficiency diseases
This document provides an overview of immunodeficiency diseases. It describes how immunodeficiencies can be primary, due to abnormalities in immune system development, or secondary, resulting from other diseases or conditions. The major classifications of primary immunodeficiencies are then outlined, including humoral deficiencies affecting B cells, cellular deficiencies affecting T cells, combined deficiencies, and disorders of complement and phagocytosis. Several specific primary immunodeficiency diseases are then described in more detail. Secondary immunodeficiencies resulting from external factors like malnutrition, infection, or drugs are also briefly discussed.
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Immunodeficiency diseases
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- 2. INTRODUCTION Defence mechanismof 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 thedevelopment of immune mechanisms Secondary: Consequences of disease, drug, nutritional inadequacies
- 4. CLASSIFICATION OF PRIMARY IMMUNODEFICIENCYSYNDROMES Humoral Immunodeficiencies Cellular Immunodeficiencies Combined Immunodeficiencies Disorders of Complement Disorders of Phagocytosis
- 5. HUMORAL IMMUNODEFICIENCIES (B CELLDEFECTS) 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 decreaseof 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 Reportedin 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 CELLDEFECTS) 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 Thethymus 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 Abnormalimmunological 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 Nezelofsyndrome Ataxia Telengiectasia Wiskott Aldrich Syndrome Immunodeficiency with Thymoma Episodic lymphopenia with lymphocytotoxin Severe combined immunodeficiencies
- 19. COMBINED IMMUNDEFICIENCIES NezelofSyndrome Ataxia telangiectasia Wiskott Aldrich Syndrome Immunodeficiency with thymoma Immunodeficiency with short limbed dwarfism Episodic lymphopenia with Lymphocytotoxin Severe combined immunodeficies
- 20. NEZELOF SYNDROME Cellularimmunodeficiency 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 Autosomalrecessive Cerebellar ataxia Chorioatethoid movements Telengiectasia Ovarian dysgenesis Sinopulmonary infection & malignancy Absence of IgA & low IgE Transfer factor therapy and fetal thymus transplants
- 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
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- 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 OFDE 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
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- 35. JOB’S SYNDROME Multiplelarge 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 Leukokinincapable 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
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- 40. SECONDARY IMMUNODEFICIENCIES Malnutrition Malignancy Infection Metabolic disorders Cytotoxic drugs Humoral and cell mediated immune deficiency
- 41. HUMORAL DEFICIENCY Chroniclymphatic leukemia Nephrotic Syndrome Exfoliative Skin disease Protein losing Enteropathies Multiple Myeloma
- 42. CELL MEDIATED IMMUNEDEFICIENCY Hodgkin’s disease Obstruction in lymph circulation Lepromatous leprosy Measles
- 43. CLINICAL CASE Anine 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 onthe 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?
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