| Question | Answer |
|---|
| Bruton's agammaglobulinemia Defect | X-Linked recessive (↑ in Boys) Defect in BTK, ,a tyrosine kinase gene → blocks B-ce11 differentiation/maturation . |
| Bruton's agammaglobulinemia Presentation | Recurrent bacterial infections after 6 months (↓ maternal IgG) due to opsonization defect |
| Bruton's agammaglobulinemia Labs | Normal pro-B, ↓ maturation, ↓ number of B cells, ↓ immunoglobulins of all classes |
| Hyper-lgM syndrome Defect | Defective CD40L on helper T cells = inability to class switch |
| Hyper-lgM syndrome Presentation | severe pyogenic infections early in life |
| Hyper-lgM syndrome Labs | ↑ IgM, ↓↓IgG, IgA, IgE |
| Selective Ig deficiency Defect | Defect in isotype switching → deficiency in specific class of immunoglobulins |
| Selective Ig deficiency Presentation | Sinus and lung infections, milk allergies and diarrhea. Anaphylaxis on exposure to blood products with IgA |
| Selective Ig deficiency Labs | IgA deficiency most common - Failure to mature into plasma cells (↓ secretory IgA) |
| Common variable immunodeficiency (CVlD) Defect | Defect in B-cell maturation; many causes |
| Common variable immunodeficiency (CVlD) Presentation | Can be acquired in 20s-30s, ↑ risk of autoimmune disease, lymphoma, sinopulmonary infections |
| Common variable immunodeficiency (CVlD) Labs | Normal number of B cells, ↓ plasma cells, immunoglobulin |
| Thymic aplasia (DiGeorge syndrome) Defect | 22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches |
| Thymic aplasia (DiGeorge syndrome) Presentation | Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), congenital heart and great vessel defects |
| Thymic aplasia (DiGeorge syndrome) Labs | Thymus and parathyroids fail to develop → ↓T cells, ↓PTH, ↓Ca2+. . Absent thymic shadow on CXR |
| IL-12 receptor deficiency Defect | ↓ Th1 response |
| IL-12 receptor deficiency Presentation | Disseminated mycobacterial infections |
| IL-12 receptor deficiency Labs | ↓ IFN gamma |
| Hyper IgE syndrome (Job’s syndrome) Defect | Th cells fail to produce IFN-gamma → inability of neutrophila to respond to chemotactic stimuli |
| Hyper IgE syndrome (Job’s syndrome) Presentation | FATED: coarse Facies, cold (noninflamed) staphylococcal, Abscesses, retained primary Teeth, ↑ IgE, Dermatologic problems (eczema) |
| Hyper IgE syndrome (Job’s syndrome) Labs | ↑IgE |
| Chronic mucocutaneous candidiasis Defect | T-cell dysfunction |
| Chronic mucocutaneous candidiasis Presentation | Candida albicans infections of skin and mucous membranes |
| Severe combined immunodeficiency (SCID) Defect | Several types: defective IL-2 receptor (most common, X-linked), adenosine deaminase deficiency, failure to synthesize MHC II antigens |
| Severe combined immunodeficiency (SCID) Presentation | Recurrent viral, bacterial, fungal and protozoal infections due to both B and T cell deficiency |
| SCID treatment | bone marrow transplant (no allograft rejection) |
| Severe combined immunodeficiency (SCID) Labs | ↓ IL-2R = ↓ T-cell activation, ↑ adenin = toxic to B and T cells (dNTPs, ↓DNA synthesis) |
| Ataxia-telangiectasia Defect | Defect in DNA repair enzymes |
| Ataxia-telangiectasia Presentation | Triad of cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency |
| Ataxia-telangiectasia Labs | IgA deficiency |
| Wiskott-Aldrich sydrome Defect | X-linked recessive defect, progressive deletion of B and T cells |
| Wiskott-Aldrich sydrome Presentation | Triad (TIE) - Thrombocytopenic purpura, Infections, Eczema |
| Wiskott-Aldrich sydrome Labs | ↑ IgE, IgA, ↓IgM |
| Leukocyte adhesion deficiency (type I) Defect | Defect in LFA-1 integrin (CD18) protein on phagocytes |
| Leukocyte adhesion deficiency (type I) Presentation | Recurrent bacterial infections, absent pus formation, delayed separation of umbilicus |
| Leukocyte adhesion deficiency (type I) Labs | Neutrophilia |
| Chediak-Higashi syndrome Defect | Autosomal recessive defect in microtubular function with ↓ phagocytosis |
| Chediak-Higashi syndrome Presentation | Recurrent pyogenic infections by staphylococci and streptococci; partial albinism, peripheral neuropathy |
| Chronic granulomatous disease Defect | Lack of NADPH oxidase → ↓ reactive oxygen species (e.g. Superoxide) and absent respiratory burst in neutrophils |
| Chronic granulomatous disease Presentation | ↑ susceptibility to catalase-positive organisms (S.aureus, E.coli, Aspergillis) |
| Chronic granulomatous disease Labs | Negative nitroblue tetrazolium dye reduction test |
| Draw picture of sites of block of Lymphocyte development | draw |
| Autograft | From self |
| Syngeneic graft | from identical twin or clone |
| Allograft | From nonidentical individual of same species |
| Xenograft | from different species |
| Hyperacute rejection | Antibody mediated (type II) due to the presence of preformed antidonor antibodies in the transplant recipient. Occurs within minutes after transplantation |
| Acute rejection | Cell mediated due to cytotoxic T lymphocytes reacting against foreign MHCs. Occurs weeks after transplantation. Reversible with immunosuppressants such as cyclosporine and OKT3 |
| Chronic rejection | T cell and antibody mediated vascular damage (obliterative vascular fibrosis); occurs months to years after transplantation. Irreversible. Class I-MHC (non-self) is perceived by CTLs as class I MHC(self) presenting a non-self antigen |
| Graft-versus-host-disease | Grafted immunocompetent T cells proliferate in the irradiated immunocompromised host and reject cells with “foreign” proteins, resulting in severe organ dysfunction. Major symptoms include a macopapular rash, jaundice, hepatosplenomegaly and diarrhea |
| Cyclosporine clinical use | Supresses organ rejection after transplantation; selected autoimmune disorders |
| Cyclosporine Toxicity | Predisposes patients to viral infections and lymphoma; nephrotoxic (preventable with mannitol diuresis) |
| Tacrolimus (FK506) clinical use | Potent immunosuppressive used in organ transplant recipients |
| Tacrolimus (FK506) Toxicity | Significant - nephrotoxicity, peripheral neuropathy, hypertension, pleural effusion, hyperglycemia |
| Azathioprine Clinical use | Kidney transplantation, autoimmune disorders (including glomerulonephritis and hemolytic anemia) |
| Azathioprine Toxicity | Bone marrow suppression. Active metabolite mercaptopurine is metabolized by xanthine oxidase; thus, toxic effects may be ↑ by allopurinol |
| Muromonab-CD3 (OKT3) clinical use | Immunosuppression after kidney transplantation |
| Muromonab-CD3 (OKT3) toxicity | Cytokine release syndrome, hypersensitivity reaction |
| Sirolimus (rapamycin) clinical use | Immunosuppression after kidney transplantation in combination with cyclosporine and corticosteroids |
| Sirolimus (rapamycin) toxicity | Hyperlipidemia, thrombocytopenia, leukopenia |
| Daclizumab mechanism | Monoclonal antibody with high affinity for IL-2 receptor on activated T cells |
| Aldesleukin (IL2) clinical use | Renal cell carcinoma, metastatic melanoma |
| Erythropoietin (epoetin) clinical use | Anemias (especially in renal failure) |
| Filgrastim (granulocyte colony-stimulating factor) clinical use | Recovery of bone marrow |
| Sargramostim (granulocyte-macrophage colony stimulating factor) clinical use | Recovery of bone marrow |
| Alpha interferon clinical use | Hep B, C, Kaposi’s sarcoma, leukemias, malignant melanoma |
| Beta interferon clinical use | multiple sclerosis |
| Gamma interferon clinical use | Chronic granulomatous disease |
| Oprelvekin (interleukin-11) clinical use | Thrombocytopenia |
| Thrombopoietin clinical use | Thrombocytopenia |
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2012-04-29 01:30
