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14 Primary Immunodeficiency Diseases
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Immunodeficiency disorders,2010

  1. 2. Immunodeficiency Disorders <ul><li>Immunodeficiency disorders associated with: </li></ul><ul><ul><li>Defect or impairment in immune function. </li></ul></ul><ul><ul><li>OR </li></ul></ul><ul><ul><li>Induced through infections and various environmental factors. </li></ul></ul>
  2. 3. Immunodeficiency Diseases Primary: Usually congenital, resulting from genetic defects in some components of the immune system. <ul><li>Secondary (Acquired): as a result of other diseases or conditions such as: </li></ul><ul><ul><li>HIV infection </li></ul></ul><ul><ul><li>malnutrition </li></ul></ul><ul><ul><li>immunosuppression </li></ul></ul>
  3. 4. Primary Immunodeficiency Diseases occur when there is a defect in any one of the many steps during lymphocyte development
  4. 5. Manifestations: <ul><li>Disorders are manifested at different levels including : </li></ul><ul><ul><li>B cell, T cell, phagocytic cells and complement system. </li></ul></ul><ul><ul><li>Most prominent manifestations: dermatological conditions such as eczema and cutaneous infections. </li></ul></ul>
  5. 6. Symptoms: <ul><li>Recurrent respiratory infections. </li></ul><ul><li>Persistent bacterial infections -> sinusitis, otitis and bronchitis. </li></ul><ul><li>Increased susceptibility to opportunistic infections (OIs) and recurrent fungal yeast infections. </li></ul><ul><li>Skin and mucous membrane infections. </li></ul><ul><li>Resistant thrush, oral ulcers and conjunctivitis. </li></ul><ul><li>Diarrhoea and malabsorption. </li></ul><ul><li>Failure to thrive and delayed or incomplete recovery from illness. </li></ul>
  6. 7. Classification of Primary IDDs <ul><li>Primary B cell immunodeficiency: </li></ul><ul><li>X-linked Agammaglobulinaemia (Bruton,s disease) </li></ul><ul><li>Selective IgA deficiency </li></ul><ul><li>Primary T cell immunodeficiency: </li></ul><ul><li>Di George syndrome </li></ul><ul><li>Ataxia – telangiectasia </li></ul><ul><li>Wiskott – Aldrich syndrome </li></ul><ul><li>Acquired immunodeficiency </li></ul><ul><li>Chemotaxis deficiency </li></ul><ul><li>Chronic granulomatous disease </li></ul><ul><li>Chediak – Higashi syndrome </li></ul><ul><li>Leukocyte adhesion deficiency </li></ul><ul><li>Complement system deficiency </li></ul>
  7. 8. Aetiology <ul><li>Aetiology associated with </li></ul><ul><ul><li>Genetic defects of missing enzymes. </li></ul></ul><ul><ul><li>Specific development impairment (pre-B-cell failure). </li></ul></ul><ul><ul><li>Infections, malnutrition and drugs </li></ul></ul>
  8. 9. Primary B Cell Immunodeficiency <ul><li>Common variable immunodeficiency associated with </li></ul><ul><ul><li>Mature B cells failure to differentiation into mature plasma secreting cells (antibody forming cells). </li></ul></ul>
  9. 10. X-linked Agammaglobulinaemia (XLA)/Bruton’s Disease: <ul><li>Deficiency of B cell tyrosine kinase causing failure in the development of pre-B cell maturation to B cells. </li></ul><ul><li>Majority of XLA patients show: </li></ul><ul><ul><li>Profound hypogammaglobulinaemia involving all immunoglobulin classes with <1% B cells in normal peripheral blood. </li></ul></ul>
  10. 11. <ul><li>Clinical presentations of Brutons disease: </li></ul><ul><li>Increased susceptibility to encapsulated recurrent pyogenic bacteria ( S. pneumonia , and p seudomonas species). </li></ul><ul><li>Skin infections (group A streptococci and S. aureus ). </li></ul><ul><li>Persistent viral or parasitic infections. </li></ul>
  11. 12. Selective IgA deficiency (IgA D) <ul><li>Patients with IgA deficiency have: </li></ul><ul><ul><li>IgA levels < 5mg/dL with normal levels of other Igs and </li></ul></ul><ul><ul><li>50% have chronic otitis, sinusitis or pneumonia. </li></ul></ul><ul><li>IgA committed B lymphocytes: </li></ul><ul><ul><li>Fail to mature into IgA-secreting plasma cells caused by intrinsic B cell defect. </li></ul></ul>
  12. 13. <ul><li>Patients of IgA deficiency are susceptible to: </li></ul><ul><ul><li>Allergic conjunctivitis, urticaria and asthma. </li></ul></ul><ul><ul><li>Autoimmune and neurological disorders. </li></ul></ul><ul><ul><li>Various gastrointestinal diseases (food allergy). </li></ul></ul><ul><ul><li>recurrent sinopulmonary infections. </li></ul></ul>
  13. 14. Severe Combined Immunodeficiency Disease (SCID) <ul><li>Disorder characterized by: </li></ul><ul><li>Deficiency in b oth B and T lymphocyte functions with markedly low IgG, IgA and IgE levels. </li></ul><ul><li>SCID associated with: </li></ul><ul><ul><li>Children failure to thrive. </li></ul></ul><ul><ul><li>chronic respiratory infections. </li></ul></ul><ul><ul><li>Gastrointestinal and/or cutaneous infections particularly recurrent viral, bacterial, fungal and protozoan infections in 6 months' infants. </li></ul></ul>
  14. 15. <ul><li>SCID manifests early with: </li></ul><ul><ul><li>Persistent and recurrent diarrhoea, otitis, thrush and respiratory infections in the first few months of life. </li></ul></ul><ul><li>T cell defects associated with: </li></ul><ul><ul><li>Candidiasis, CMV infection, measles and varicella leading to life threatening pneumonia, meningitis and sepsis. </li></ul></ul><ul><li>SCID managed through Ig infusion, stem cell transplantation and gene replacement. </li></ul>
  15. 16. T Cell Immunodeficiency Diseases <ul><li>T cell congenital disorders display: </li></ul><ul><ul><li>Little or no cell mediated immunity and may involve B cell deficiencies. </li></ul></ul><ul><li>Patients particularly susceptible to: </li></ul><ul><ul><li>Repeated fungal ( Candida ) infection. </li></ul></ul><ul><ul><li>Protozoan and viral infections. </li></ul></ul>
  16. 17. Primary T cell immunodefiency includes: <ul><ul><li>Di-George syndrome </li></ul></ul><ul><ul><li>Wiskott-Aldrich syndrome </li></ul></ul><ul><ul><li>Cartilage hair hypoplasi, </li></ul></ul><ul><ul><li>Ataxia - telangiectasia </li></ul></ul><ul><ul><li>Defective expression of class II MHC molecules </li></ul></ul><ul><ul><li>Defective expression of CD3-T cell receptor (TCR) complex </li></ul></ul>
  17. 18. Di George Syndrome (Thymic Aplasia) <ul><li>Congenital disorder characterized by: </li></ul><ul><li>Lack of embryonic development or underdevelopment of the 3rd and 4th pharyngeal pouches. </li></ul><ul><li>Thymic hypoplasia, hypothyroidism and congenital heart disease. </li></ul><ul><li>Patients susceptible to uncontrolled opportunistic infections. </li></ul><ul><ul><li>Impaired in cellular mechanisms. </li></ul></ul><ul><ul><li>Profound lymphopenia (T cell <1200  L). </li></ul></ul>
  18. 19. Ataxia Telangiectasia (AT) <ul><li>Autosomal recessive progressive neurodegenerative childhood disorder associated with: </li></ul><ul><ul><li>Lack of coordination (cerebella ataxia) and dilation of facial blood vessels (telangiectasis) and slurred speech. </li></ul></ul><ul><ul><li>Patients have defective mechanisms of DNA repair and are predisposed to leukaemias and lymphomas. </li></ul></ul><ul><ul><li>Extremely sensitive to radiation exposure and susceptible to chronic respiratory infections. </li></ul></ul>
  19. 20. Wiskott-Aldrich Syndrome (WAS) <ul><li>An X-linked recessive disorder associated with thyrombocytopenia and eczema. </li></ul><ul><li>Patients have </li></ul><ul><ul><li>Elevated IgA and IgE </li></ul></ul><ul><ul><li>Low IgM </li></ul></ul><ul><li>Variable T cell dysfunctionsT cell dysfunction manifested by: </li></ul><ul><ul><li>Severe herpex virus and Pneumocystis carinii infections </li></ul></ul><ul><ul><li>Increased lymphomas and autoimmune diseases. </li></ul></ul><ul><ul><li>Recurrent pyogenic bacterial infections. </li></ul></ul><ul><ul><li>Usually affecting ears, sinuses and lungs. </li></ul></ul>
  20. 21. Acquired Immunodeficiency Syndrome/AIDS
  21. 22. What is HIV/AIDS? <ul><li>HIV stands for: </li></ul><ul><li>H uman I mmunodeficiency V irus (HIV) </li></ul><ul><li>AIDS stands for: </li></ul><ul><li>A cquired I mmune D eficiency S yndrome (AIDS) </li></ul>
  22. 23. What is HIV/AIDS ? <ul><li>AIDS is caused by the HIV (virus). </li></ul><ul><li>16,000 HIV viruses can fit on a pinhead. </li></ul><ul><li>Viruses multiply inside body cells & cause illness. </li></ul><ul><li>Other viruses which cause illness in humans: </li></ul><ul><ul><li>common cold </li></ul></ul><ul><ul><li>polio </li></ul></ul><ul><ul><li>measles </li></ul></ul><ul><ul><li>hepatitis </li></ul></ul><ul><ul><li>SARS </li></ul></ul>
  23. 24. The immune system army
  24. 25. What is the immune system? <ul><li>The immune system is the body’s defense system </li></ul><ul><li>Uses white blood cells & special proteins to fight foreign organisms </li></ul><ul><li>Is controlled by specialized white blood cells called T- lymphocytes ( CD4 cells). </li></ul><ul><li>Proteins called antibodies are manufactured against specific organisms </li></ul>
  25. 26. How does HIV affect the immune system? <ul><li>HIV specifically attacks the CD4 cells </li></ul><ul><li>The HIV antibodies produced by the immune system are unable to overcome the infection. </li></ul><ul><li>Over time, HIV progressively weakens the immune system. </li></ul><ul><li>The person becomes “immunodeficient” </li></ul><ul><li>A weak immune system can no longer effectively defend the body. </li></ul>
  26. 27. What happens when the immune system is weakened? <ul><li>The body becomes vulnerable to a variety of infections & cancers. </li></ul><ul><li>Infections that take advantage of a weakened immune system are “opportunistic infections”. </li></ul><ul><li>Eventually the immune system is so weak that the body is overwhelmed by infections and/or cancers, and the person dies. </li></ul>
  27. 28. What is AIDS? <ul><li>Acquired Immune Deficiency Syndrome </li></ul><ul><li>A “syndrome” is a group of symptoms & signs associated with the same underlying condition. </li></ul><ul><li>The variety of opportunistic infections & cancers cause a variety of symptoms & signs. </li></ul><ul><li>This group of illnesses with their symptoms & signs makes up the syndrome “AIDS”. </li></ul>
  28. 29. What is the difference between “having HIV” and “having AIDS” ? <ul><li>When the HIV virus enters the body, the person “has HIV”. </li></ul><ul><li>HIV is diagnosed by a blood test. </li></ul><ul><li>When the immune system is severely weakened by HIV, resulting in severe opportunistic infections, the person “has AIDS”. </li></ul><ul><li>There are specific criteria for diagnosing AIDS. </li></ul>
  29. 30. Acquired Immunodeficiency Syndrome (AIDS) <ul><li>HIV-1 predominantly found in East, Central, South Africa and other parts of the world </li></ul><ul><li>HIV-2 reported mainly in W. Africa. </li></ul>
  30. 31. PREVALENCE <ul><li>HIV infection – global pandemic </li></ul><ul><li>Among adults 15 - 49 yrs. , 1.1% </li></ul><ul><li>Worldwide 40.3 million infected people, </li></ul><ul><li>4.1 million death </li></ul><ul><li>4.5 million new cases/ year. </li></ul><ul><li>14,000 new infections/ day </li></ul><ul><li>(UNAIDS 2006 ) </li></ul>
  31. 32. History <ul><li>1979 – Increased Kaposi sarcoma and Pneumocystis carinii infections in homosexuals noted in Africa. </li></ul><ul><li>1981 – First case in California. </li></ul><ul><li>> 30 million in world – 1999 – increasing </li></ul><ul><li>0.01% incidence in Australasia </li></ul><ul><li>67% in Sub-Saharan Africa…! </li></ul>
  32. 33. <ul><li>Pathogenesis of HIV </li></ul><ul><li>It is RNA virus, in the group of lenti virus. </li></ul><ul><li>Subfamily of retrovirus. </li></ul><ul><li>Two major forms of HIV. </li></ul><ul><li>Primary targets CD4+T lymphocytes. </li></ul><ul><li>Monocytes and macrophages also support viral replication. </li></ul>
  33. 35. HIV Tropism <ul><li>Penetration of host plasma membrane results into virion. </li></ul><ul><li>Reverse transcriptase and integrase molecules attached to viral RNA is important. </li></ul><ul><li>Reverse transcriptase synthesizes DNA copies of RNA. </li></ul><ul><ul><li>Integrase catalyses their insertion into the host DNA chromosome in the nucleus. </li></ul></ul>
  34. 36. HIV Replication
  35. 37. Modes of transmission : <ul><li>Sexual </li></ul><ul><ul><ul><ul><li>The predominant mode </li></ul></ul></ul></ul><ul><li>2. Parenteral </li></ul><ul><li>3. Vertical </li></ul>Contaminated needles and syringes Contaminated instruments Blood and blood products
  36. 38. Mother to Child Transmission (MTCT) <ul><li>Occurs in utero during the last few weeks of pregnancy and at child birth. </li></ul><ul><li>MTCT during pregnancy, labour and delivery high. </li></ul>
  37. 39. HIV cannot be transmitted by: <ul><ul><li>Casual contact </li></ul></ul><ul><ul><li>Food, air, water </li></ul></ul><ul><ul><li>Vectors-Coughing, sneezing, spitting. </li></ul></ul><ul><ul><li>Shaking hands, touching, dry kissing or hugging. </li></ul></ul><ul><ul><li>Swimming pools, toilets, etc. </li></ul></ul>
  38. 40. Sources of infectious material <ul><li>All body fluids & tissues are infectious </li></ul><ul><li>The virus has been isolated from various body fluids, particularly blood , CSF, pleural, peritoneal, semen, saliva, breast milk, synovial and vaginal fluids, tear. </li></ul><ul><li>Body organ :spread through transplantation. </li></ul><ul><li>Urine, faeces: rare causes of spread to staff. </li></ul>
  39. 41. HIV Infection/AIDS Staging System <ul><li>Clinical Stages& Major Clinical Features: </li></ul><ul><li>Stage 1: Asymptomatic; persistent generalized lymphodenopathy (PGL) and acute retroviral infection (ARI). </li></ul><ul><li>Stage 2: Loss of weight (< 10% of body weight); minor mucocutaneous infections; herpes zoster and recurrent upper respiratory tract infections (URTI). </li></ul><ul><li>Stage 3: Loss of weight (>10% of body weight); chronic diarrhoea(> 1 month); prolonged fever; oral candidiasis; oral hairy leukoplakia; pulmonary tuberculosis; severe bacterial infections and vulvovaginal candidiasis. </li></ul><ul><li>Stage 4: HIV wasting syndrome; extrapulmonary tuberculosis; Pneumocystis carinii pneumoniae, Candidiasis of the oesophagus, trachea, bronchi or lungs; toxoplasmosis of the brain, cryptosporidiasis with mycobacteriosis; lymphoma; Kaposi’s sacoma (KS) and HIV encephalopathy. </li></ul>
  40. 42. Immunopathological Mechanisms of HIV infection <ul><li>HIV infected patients progress to AIDS disease in three phases: </li></ul><ul><li>Early phase: lasts about 2 weeks accompanied by: </li></ul><ul><li>Fever, aches and flue-like symptoms with high levels of virus in blood. </li></ul><ul><li>Middle phase: lasting months or several years (latent) with: </li></ul><ul><li>Anti-HIV antibodies </li></ul><ul><li>Continuous depletion of CD4 T cells </li></ul><ul><li>Late phase (AIDS): characterized by: </li></ul><ul><li>Rapid decline in CD4 T cells, </li></ul><ul><li>Opportunistic infections including viral (herpes simplex, herpes varicella zoster, EBV), bacterial ( M . t uberculosis ), fungi ( Candida -thrush) and protozoan ( Microsporidia ) . </li></ul><ul><li>Cancers (lymphoma; Kaposi’s sarcoma). </li></ul>
  41. 43. Pulmonary Infections: <ul><li>M. Tuberculosis and Pneumocystis pneumonia common when CD4 T cells <200/μl. </li></ul><ul><li>TB in advanced HIV infection often presents atypically with extrapulmonary diseases affecting: </li></ul><ul><ul><li>Bone marrow, bone, </li></ul></ul><ul><ul><li>Urinary and gastrointestinal tracts: </li></ul></ul><ul><ul><li>Liver, regional nodes and the central nervous system. </li></ul></ul>
  42. 44. Gastrointestinal illness: <ul><li>Inflammation of the lining of the oesophagus (oesophagitis). </li></ul><ul><li>Fungal (candidiasis) or viral (herpex simplex or cytomegalovirus) infections. </li></ul><ul><li>Chronic diarrhoea also occurs that may be caused by bacteria ( Salmonella, Shigella, Listeria or Escherichia coli ). </li></ul>
  43. 45. Major neurological illnesses: <ul><li>Toxoplasma encephalitis of the brain caused by Toxoplasma gondii , progressive multifocal leukoencephalopathy (PML), demyelinating disease. </li></ul><ul><li>Crytococcal meningitis caused by fungus Cryptococcus neoformans. </li></ul>
  44. 46. Malignancies: <ul><li>AIDS-defining malignancies include: </li></ul><ul><li>Kaposi’s sarcoma presenting as purplish nodules of the skin, mouth, gastrointestinal tract and lungs. </li></ul><ul><li>Hodgkin’s disease, anal and rectal carcinomas. </li></ul><ul><li>High grade B cell lymphomas (Burkitt’s lymphoma). </li></ul>
  45. 47. Thank you
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