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IMMUNODEFICIENCY DISEASES

IMMUNODEFICIENCY DISEASES. Dr Sathya Anandam. INTRODUCTION. Defense mechanisms of the body impaired. Leading repeated microbial infection & enhanced susceptibility to malignancies. Primary immunodeficiencies Classification Secondary immunodeficiencies.

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IMMUNODEFICIENCY DISEASES

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  1. IMMUNODEFICIENCY DISEASES Dr Sathya Anandam

  2. INTRODUCTION Defense mechanisms of the body impaired. Leading repeated microbial infection & enhanced susceptibility to malignancies. Primary immunodeficiencies Classification Secondary immunodeficiencies.

  3. PRIMARY IMMUNODEFICIENCIES Humoralimmunodeficiencies Classified into Cellular immunodeficiencies Combined immunodeficiencies

  4. Classification of primary immunodeficiency syndromes:A.Disorders of specific immunity I. Humoralimmunodeficiencies ( B cell defects ) a. X – linked agammaglobulinemia b. Transient hypogammaglobulinemia of infancy c. Common variable immunodeficiency (late onset hypogammaglobulinemia) d. Selective immunoglobulin deficiencies (IgA,IgM or IgG subclasses) e. Immunodeficiencies with hyper – IgM. f. Transcobalamin II deficiency.

  5. II. Cellular immunodeficiencies (T cell defects) a. Thymic hypoplasia (Digeorge’s syndrome) b. Chronic mucocutaneous candidiasis c. Purine nucleoside phosphorylase (PNP) deficiency.

  6. III.Combinedimmunodeficiencies (B and T cells defects) a. Cellular immunodeficiency with abnormal immunoglobulin synthesis (Nezelof syndrome) b. Ataxia telangiectasia c. Wiskott– Aldrich syndrome d. Immunodeficiency with short – limbed dwarfism e. Immunodeficiency with lymphocytotoxin f. Episodic lymphopenia with lymphocytotoxin g. Severe combined immunodeficiencies 1. ‘Swiss type’ agammaglobulinemia 2. Reticular dysgenesis of de Vaal 3. Adenosine deaminase(ADA) deficiency.

  7. B.Disorders of complement a. Complement component deficiencies b. Complement inhibitor deficiencies

  8. C.Disordersof phagocytosisa. Chronic granulomatous disease. b. Myeloperoxidase deficiency c. Chediak – Higashi syndrome d. Leucocyte G6PD deficiency e. Job’s syndrome f. Tuftsin deficiency g. Lazy leucocyte syndrome h. Hyper – IgE syndrome I. Actin – binding protein deficiency j. Shwachman’s disease.

  9. HUMORAL IMMUNODEFICIENCIES: X – linked agammaglobulinemia:- • Immunoglobulinsare grossly depleted. • Seen in male infants. • Manifestations not apparent till 6 months → Passive protection by maternal antibodies. • Disease presents as recurrent infections with pyogenic bacteria Pneumococci, Streptococci, Meningococci, Pseudomonas & H. influenzae.

  10. Presentation – Tonsils & adenoids atrophic Marked decrease in B cell circulation Plasma cells & germinal centers absent CMI not affected Management: Administration of adequate level of Ig. Whole plasma transfusion

  11. Transient Hypogammaglobulinemia of infancy:- Delay in the initiation of IgG Synthesis- Recurrent otitis media & respiratory infections are common - Spontaneous recovery – 18-30 monthsCommon variable immunodeficiency:- B cells present in circulation in normal numbers Inability to differentiate into plasma cells & secrete Ig.- Manifests by 15 – 35 years of age-Characterized by recurrent pyogenic infections.- Treatment by administration of Ig.

  12. Selective Ig deficiencies:-Selective deficiency of one or more Ig.- Ig A deficiency → common , Increased susceptibility to respiratory infection. -IgM deficiency → Septicemia - IgG deficiency → Chronic progressive bronchiectasis.Immunodeficiency with hyper IgM:--X – linked & autosomal recessive disorders- Low IgA & IgG levels with elevated Ig M.- Susceptibility to infection & autoimmune diseases like Thrombocytopenia NeutropeniaHemolytic anemia Renal lesions. - Some develop malignant infiltration with IgMproducing cells.

  13. Transcobalamine II deficiency:- Metabolic effects of vitamin B12 deficiency - Depleted plasma cells, diminished Ig level& impaired phagocytosis.- Treatment with vitamin B12 restore other functions but not phagocytic activity.

  14. CELLULAR IMMUNODEFICIENCYThymic hypoplasia (Digeorge’s syndrome)- Endodermal derivative of 3rd & 4th pharyngeal pouches- Aplasia or hypoplasia of the thymus & parathyroid glands- It may be due to intrauterine infection.- Associated with Fallot’stetrology & anomalies of heart- Characteristic facial appearance-Neonatal tetany- Enhanced susceptibility to viral, fungal & bacterial infections- Circulating T cells reduced.- Transplantation of fetal thymus tissue

  15. DIGEORGE ANOMALY

  16. Chronic Mucocutaneous candidiasis:-- Severe chronic candidiasis of the mucosa, skin & nails. - CMI to candida is deficient.- Transfer factor therapy + Amphotericin B Purine nucleoside phosphorylase (PNP) deficiency:-- Purines Hypoxanthine Uric acid.- PNP deficiency decreased CMI & recurrent or chronic infections. - Present as hypoplastic anemia & recurrent pneumonia, diarrhea & candidiasis.

  17. Candida albicans in SCID

  18. COMBINED IMMUNODEFICIENCYCellular immunodeficiency with abnormal Ig synthesis (Nezelof syndrome) - Marked deficiency of T cell immunity & varying degrees of deficiency of B cell immunity. - Recurrent fungal, bacterial, viral & protozoal diseases - Abundant plasma cells – spleen, lymph nodes, intestines- Autoimmune processes are commonTreatment:- Bone marrow transplantation, transfer factor & thymus transplantation - Adequate antimicrobial therapy.

  19. Ataxia telangiectasia: • Autosomal recessive disease. • Associated with- • Cerebellar ataxia • Telangiectasia • Ovarian dysgenesis & • Chromosomal abnormalities. • Earliest sign- ataxia & chorioathetoid movements • Telangiectasia- 5-6 years age • Death 3rd decade- sinopulmonaryinfection or malignancy. • Transfer factor therapy & fetal thymus transplants

  20. TELANGIECTASIA

  21. Wiskott – Aldrich syndrome:- X – linked disease.- Characterized by eczema, thrombocytopenic purpura & recurrent infections.- Death – due to infection, haemorrhage or lymphoreticular malignancy.- CMI undergoes progressive deterioration.- Humoral immunity → Serum IgM low , IgG & IgA normal or elevatedInability to respond to polysaccharide antigens.- Bone marrow transplant & transfer factor therapy

  22. WISKOTT-ALDRICH SYNDROME

  23. Immunodeficiency with thymoma:- • Benign thymictumour, impaired CMI,agammaglobulinemia. • Occur in adults. • Frequently accompanied with aplastic anemia Immunodeficiency with short – limbed dwarfism: • Autosomal ressive • Features - short limbed dwarfism, ectodermal dysplasia, thymicdefects & enhanced susceptibility toinfection.

  24. Severe combined Immunodeficiency:- • Autosomal recessive inheritance. • Defects in early precursors of immunocompetent cells in the fetal liver & bone marrow. 1. Swiss type agammaglobulinemia- lymphoid stem cell defect • Agammaglobulinemia , Lymphocytopenia ,severe defect in CMI 2. Reticular dysgenesis of de Vaal:- most serious • Multipotenthemopoietic stem cell defect • Lymphopenia, neutropenia, thrombocytopenia, anemia, aplasia 3. Adenosine deaminase (A D A) deficiency- • Complete absence/ mild abnormalities of B & T cell function

  25. DISORDERS OF COMPLEMENTComplement component deficiencies: - Autosomal recessive traits - Associated with S L E. - Recurrent pyogenic infections– C3 deficiency - Neisserial infection- C6 , C7, C8 deficiencyComplement Inhibitor deficiencies:C1 inhibitor deficiency → Hereditary angioneuroticedema Autosomal dominant traitC3 b inactivator → chronic recurrent pyogenic lesions

  26. ANGIONEUROTIC OEDEMA

  27. DISORDERS OF PHAGOCYTOSIS Phagocytosis impaired by Extrinsic defects Intrinsic defects Deficiency of opsonic Enzyme deficiencies antibody, complement or effects of drug, autoantibodies

  28. Chronic granulomatous disease:- Manifests as recurrent infection- Chronic suppurative & granulomatous lesions – skin, lymph nodes,- Hepatosplenomegaly, progressive infiltration of lungs & granulomatous septic osteomyelitis. - Recurrent infections → Staphylococci & coliforms. Multiply in the cells Chronic suppurative infection.- Reason: Diminished H2O2 Production Delayed granule rupture. Defective release of myeloperoxidase.- Diagnosis → NitroBlueTetrazoliumTest.

  29. Myeloperoxidase deficiency: Candidaalbicans infection occurChediak– Higashi syndrome:- Characterised by decreased pigmentation of the skin, eyes & hair, photophobia, nystagmus & giant peroxidase positive inclusions in cytoplasm of leukocyte.- Leukocytes → possess diminished phagocytic activity. Leucocyte G6 PD deficiency:- Diminished bactericidal activity after phagocytosis.- NBT test normalJob’s syndrome:- Characterised by multiple large ‘cold’ staphylococcal abscesses with inflammatory response.- Atopic eczema, chronic nasal discharge & otitis media seen.

  30. JOBS SYNDROME

  31. Tuftsindeficiency:- Leucokinin discovered at Tufts University – Tuftsin. - Tuftsin deficiency → prone to local & systemic bacterial infections.Lazy leukocyte syndrome:- Defect in chemotaxis & neutrophil mobility. - Recurrent stomatitis, gingivitis & otitis seen.Hyper – IgE syndrome:- IgE levels → Ten times more than normal level. - Eczema, abscesses, pneumonia → S.aureus, Streptococuspyogenes

  32. Actin – binding protein deficiency:- Infection & slow mobility of leucocytes seen. Shwachman’s disease: - Infection with decreased neutrophil mobility +- Pancreatic malfunction & bone abnormalities.

  33. SECONDARY IMMUNODEFICIENCY: • Malnutrition, malignancy, infections,metabolic disorders & cytotoxic drugs→ Immunodeficiency. • AIDS → Secondary immunodeficiency • Humoral deficiency- • Lymphoid malignancy (CLL) • Nephrotic syndrome- catabolism of Ig • Exfoliative skin disease , protein losing enteropathies • Multiple myeloma- production of abnormal Ig

  34. Cell mediated immunity- • Lymphoreticular malignancies- Hodgkin’s disease • Lymph obstruction or lymphorrheas • Lepromatous leprosy • Viral infection – measles

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