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Immuno deficiency diseases- primary and secondary
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- 3. LEARNING OBJECTIVES • Typesof immunodeficiencies Primary secondary • Classification of primary immunedeficiencies • Secondary immune deficiencies • AIDS
- 4. • Immunodeficiency deficiencydiseases are conditions where the defense mechanisms of the body are impaired . • Deficiencies of defense mechanisms may involve SPECIFIC IMMUNE FNS – humoral immunity,cell mediated immunity or both – or NON SPECIFIC MECHANISMS such as phagocytosis & complement, which augment and act in conjunction with specific immune processes .
- 5. • Immuno deiciencies primaryimmunodeficiencies secondary immunodeficiencies Primary ID - results from abnormalities in the development of immune mechanisms Secondary ID – are consequences of disease,drugs,nutritional inadequacies
- 6. PRIMARY IMMUNE DEFICIENCIES DISORDERSOF SPECIFIC IMMUNITY DISORDERS OF COMPLEMENT DISORDERS OF PHAGOCYTOSIS HUMORAL DEF. CELLULAR DEF. COMBINED
- 7. CLASSIFICATION OF PRIMARYIMMUNODEFICIENCIES X LINKED AGAMMAGLOBULINEMIA TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY COMMON VARIABLE IMMUNODEFICIENCY SELECTIVE IMMUNOGLOBIN DEFICIENCIES IMMUNODEFICIENCIES WITH HYPER IGM TRANSCOBALAMIN II DEFICIENCY 1.HUMORAL IMMUNODEFICIENCIES A.DISORDERS OF SPECIFIC IMMUNITY
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- 9. CELLULAR IMMUNODEFICIENCY WITH ABNORMALIMMUNOGLOBULIN SYNTHESIS (NEZELOF SYNDROME ) ATAXIA TELENGIECTASIA WISKOTT – ALDRICH SYNDROME IMMUNODEFICIENCY WITH THYMOMA EPISODIC LYMPHOPENIA WITH LYMPHOCYTOTOXIN SEVERE COMBINED IMMUNODEFICIENCIES 3.COMBINED IMMUNODEFICIENCIES
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- 11. C/C GRANULOMATOUS DISEASE MYELOPEROXIDASEDEFICIENCY CHEDIAK HIGASHI SYNDROME LEUCOCYTE G6PD DEFICIENCY JOB’S SYNDROME TUFTSIN DEFICIENCY LAZY LEUCOCYTE SYNDROME HYPER IG E SYNDROME ACTIN – BINDING PROTEIN DEFICIENCY SHWACHMANS DISEASE C. DISORDERS OF PHAGOYTOSIS
- 12. X LINKED AGAMMAGLOBULINEMIA TRANSIENTHYPOGAMMAGLOBULINEMIA OF INFANCY COMMON VARIABLE IMMUNODEFICIENCY SELECTIVE IMMUNOGLOBIN DEFICIENCIES IMMUNODEFICIENCIES WITH HYPER IGM TRANSCOBALAMIN II DEFICIENCY 1.HUMORAL IMMUNODEFICIENCIES A.DISORDERS OF SPECIFIC IMMUNITY
- 13. X LINKED AGAMMAGLOBULINEMIA• Firstimmunodeficiency disease to have been recognised . • Described by BRUTON ( 1952 ) . • Due to Bruton Tyrosine Kinase mutation • Seen only in MALE infants . • Manifestations not apparent till about 6 months of age . NAÏVE B CELLS PLASMA CELLS IgG,IgM,IgA,IgE BTK
- 14. • Clinical pesentation: Recurrent serious infns (pneumococci,streptococci,meningococci,ps eudomonas & h.influenzae) No tonsils or palpable lymph node
- 15. • Avoid Livemicrobial vaccines • All classes of immunoglobulins are grossly depleted in serum . • IgG level being less than a tenth,IgA and IgM less than a hundredth of the normal level . • Marked decrease in proportion of B cells in circulation. • CMI not affected . • MX : 300mg/kg of gammaglobulin per kg of bodyweight in 3 doses foll. by monthly injns of 100mg/kg .
- 16. TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCYDue toabnormal delay in the initiation of IgG synthesis in some infants . Presents b/w 6 -12 months of age . When there is a delay, immunodeficiency occurs . Recurrent otitis media & respiratory infectios are common . Spontaneous recovery occurs b/w 18 & 30 months of age . Found in infants of both sexes . Rx : may be req in some cases, but prophylactical administration not recommended . M = F
- 17. COMMON VARIABLE IMMUNODEFICIENCY Late onsethypogammaglobulinemia . Manifests only by 15 – 35 years of age . Recurrent pyogenic infections and increased incidence of autoimmune diseases. Malabsorption and giardiasis are common . Total immunoglobulin level is less than 300mg/100ml,with IgG < 250mg/100ml . B cells present in circulation in normal numbers, but they appear defective in their inability to differentiate into plasma cells and secrete immunoglobulins. RX : administration of gammaglobulin preparation
- 18. X – LINKED AGAMMAGLOBULINEMIA COMMONVARIABLE IMMUNOGLOBULIN DEFICIENCY HUMORAL HUMORAL PRESENT AFTER 6 MONTHS ADOLOSCENCE ABSENT ANTIBODIES LOW ANTIBODIES ( VARIABLE LEVELS ) ABSENT TONSILS NORMAL SIZE TO LARGE TONSILS
- 19. SELECTIVE IMMUNOGLOBULIN DEFICIENCIES• Selectivedeficiency of one or more immunoglobulin classes. • These dysgammaglobulinemias are common. • Isolated IgA deficiency is the most common . • Often accompanied by atopic disorders . • Increased susceptibility to respiratory infection & steatorrhea. • Selective IgM deficiency has been ass with septicemia . • Selective IgG deficiency has been ass with c/c progressive bronchiectasis .
- 20. IMMUNODEFICIENCIES WITH HYPER IgM•XL , AR . • Low IgA & IgG, IgE levels are seen with elevated IgM . • Mutations in the genes that code for CD40 LIGAND • IgM molecules appear to have normal structure and possess antibody activity . • Enhanced susceptibility to infns & autoimmune processes such as thrombocytopenia,neutropenia,hemolytic anemia & renal lesions. • Some develop malignant infiltration with IgM producing cells. • DD : Congenital Rubella • RX: IgG REPLACEMENT THERAPY
- 22. TRANSCOBALAMIN II DEFICIENCY • AR •Pts show metabolic effects of vit B12 def. including megaloblastic anemia and intestinal villous atrophy . • Immunological defects : depleted plasma cells,diminished immunoglobulin levels, impaired phagocytosis . • Rx : vit B12 .
- 23. GENERAL PRESENTATION T –CELL DEFECTS B – CELL DEFECTS PRESENT AFTER BIRTH PRESENT AT 6 MONTHS OR OLDER COMBINED DEFECTS ARE MORE SEVERE VIRAL INFNS FUNGAL INFNS MYCOBACTERI A PCP BACTERIAL INFNS PROTOZOAL INFNS ENTERO VIRUS
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- 25. THYMIC HYPOPLASIA/DIGEORGE SYNDROME Failureof the third and fourth pharyngeal pouch . Due to 22 q 11 mutation Lack of thymus T cell deficiency Lack of parathyroid hypocalcemia Abnormalities of heart,great vessels Abnormal facial features
- 26. CHRONIC MUCOCUTANEOUS CANDIDIASIS Abnormal immunological response to candida albicans. Severe chronic candidiasis of mucosa,skin & nails. No increased susceptibility to other infns. CMI to candida is deficient. RX Transfer factor therapy along with Amphotericin B
- 27. PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY AR Decreased CMI Recurrent or chronic infns Low serum uric acid points to the diagnosis Hypoplstic anemia Recurrent pneumonia Diarrhoea Candidiasis
- 28. CELLULAR IMMUNODEFICIENCY WITHABNORMAL IMMUNOGLOBULIN SYNTHESIS (NEZELOF SYNDROME ) ATAXIA TELENGIECTASIA WISKOTT – ALDRICH SYNDROME IMMUNODEFICIENCY WITH THYMOMA EPISODIC LYMPHOPENIA WITH LYMPHOCYTOTOXIN SEVERE COMBINED IMMUNODEFICIENCIES 3.COMBINED IMMUNODEFICIENCIES
- 29. CELLULAR IMMUNODEFICIENCY WITH ABNORMALIMMUNOGLOBULIN SYNTHESIS (NEZELOF SYNDROME) • Group of disorders • Depressed CMI with selectively elevated,decreased or normal levels of immunoglobulin • Marked T cell def with varyind B cell def . • In spite of normal level of Igs,antigenic stimuli do not induce ab fmn. Recurrent fungal,bacterial & viral infns Rx BMT Transfer factor Thymus transplantn Antimicrobials
- 30. ATAXIA TELENGIECTASIA • AR •Ataxia telengiectasia mutated (ATM ) gene at 11q22 - 23 • 23 ( AUTOSOMAL RECESSIVE ) . • Affects T and B cell . • Thymic hypoplasia CLINICAL PRESENTATION Ataxic gait in second yr of life . Inability to ambulate independently @ 10 yrs of age . Telengectasia ( dilated blood vessels ) . Ovarian dysgenesis Risk of malignancy Diagnosis ELEVATED AFP DECR. IgA AND IgE MRI: CEREBRAL ATROPHY & VENTRICULAR ENLARGEMENT Rx IVIG ANTIBIOTICS
- 31. WISKOTT ALDRICH SYNDROME •XLR • ONLY BOYS • Mutn IN WASp COMMON PRESENTATION • Eczema • Bloody diarrhea • Atopic dermatitis • Infn with encapsulated bacteria Eczema Thrombocytopenia Small platelets Recurrent infns – T cells affected Diagnosis Decr. T cell number & function Low IgM Prenatal- CVS - amniocentesis Rx Skin care IVIG and/or corticosteroids Platelet transfusion splenectomy
- 32. AATAXIA TELENGECTASIA FRIEDREICH’SATAXIA AR AR Chr 11 CHR 9 Ataxia Ataxia Age 1 yr Age 8 -15 yrs require wheel chair by 10/11 yrs Loss of ambulation 15 yrs after the onset intact sensation & negative rhombergs sign Spinal or sensory ataxia & positiv rhombergs sign telengectasia No T& B cells affected No
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- 36. COMPLEMENT COMPONENT DEFICIENCIES • AR •Freq ass with SLE • Recurrent pyogenic infns with C3 deficiency • Neisserial infns with C6,C7 & C8
- 37. COMPLEMENT INHIBITOR DEFICIENCIES • AD •Hereditary angioneurotic edema – C1 inhibitor def • Chronic recurrent pyogenic infections – C3b inactivator def
- 38. C/C GRANULOMATOUS DISEASE MYELOPEROXIDASEDEFICIENCY CHEDIAK HIGASHI SYNDROME LEUCOCYTE G6PD DEFICIENCY JOB’S SYNDROME TUFTSIN DEFICIENCY LAZY LEUCOCYTE SYNDROME HYPER IG E SYNDROME ACTIN – BINDING PROTEIN DEFICIENCY SHWACHMANS DISEASE C. DISORDERS OF PHAGOYTOSIS
- 39. C/C GRANULOMATOUS DISEASE &MYELOPEROXIDASEDEFICIENCY AR XLR NBT
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- 41. Clinical features AR Albinism,photophobia,nystagmus Frequent andsevere pyogenic infns Mild bleeding diathesis Recurrent infections DIAGNOSIS LARGE CYTOPLASMIC GRANULES( IB ) IN ALL NUCLEATED CELLS GRANULES ARE PEROXIDASE POSITIVE RX BMT
- 42. LEUCOCYTE G6PD DEFICIENCY •Leucocytes deficient in gluc 6 phosphate dehydrogenase • Diminished bactericidal activity after phagocytosis • NBT test normal JOB’S SYNDROME • Primary defect in phagocytic function • Serum immunoglobulins normal except for IgE TUFTSIN DEFICIENCY Prone to local & systemic bacterial infns LAZY LEUCOCYTE SYNDROME Basic defect in chemotaxis and neutrophil mobility. HYPER IgE SYNDROME Cellular and humoral immune mechanisms are normal But IgE levels aremore
- 43. SECONDARY IMMUNODEFICIENCIES • CAUSES 1.MALNUTRITION 2. MALIGNANCY 3. INFECTIONS 4. MATABOLIC DISORDERS 5. CYTOTOXIC DRUGS / IMMUNOSUPPRESSIVE AGENTS 6. AGEING
- 44. • DEFICIENCIES inhumoral and cellular immune responses occur secondarily during course of many disease processes . • Secondary immune deficiency is more common than the primary immune deficiency • AIDS, Aquired immune deficiency syndrome is the most common . • Humoral deficiency lymphoid malignancy ( CLL ) nephrotic syndrome exfoliative skin disease protein losing enteropathioes multiple myeloma • Cellular deficiency lymphoreticular malignancies lymphatic obstruction or lymphorrheas lepromatous leprosy measles
- 45. AIDS • HIV 1 •Infects helper T cells (TH ) cells • Normal count – 1200/mm³ • Aids - < 200/mm³ of blood • Monocytes also get infected .
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- 48. SUMMARY • Primary immunodeficienciespresent more common in children & adoloscents . • In general secondary immunodeficiencies afe more common <6 MNTS, FTT, C/C DIARRHOEAEA ABSENT TONSILS & THYMUS >6 MONTHS ABSENT TONSILS,LNs BOYS ADOLOSCENCE Low Igs NORMAL TONSILS RECURRENT INFECTIONS SCID X-LINKED AGAMMAGLOBULI NEMIA CVID
- 49. RECURRENT INFNS Staph aureus Pneumatocele Coarse facialfeatures Eczema PCP infns Mouth ulcers Neutropenia Recurrent gi infns Recurrent sinusitis Low IgA Hyper IgE syndrome Hyper IgM syndrome IgA deficiency