| Disease | Defect | Presentation | Labs |
|---|
| Bruton's agammaglobulinemia | XLR. Defect in BTK, tyr-kinase, blocks B-cell differentiation/maturation | Recurrent bacterial infections after 6 mos (decreased maternal IgG) due to opsonization defect | Normal pro-B, decreased maturation, # of B-cells, Ig's of all classes |
| Hyper-IgM syndrome | Defective CD40L on Th cells = inability to class switch | Severe pyogenic infxns early in life | INCREASED IgM, decreased IgA/G/E |
| Selective Ig deficiency | Defect in isotype switching, deficiency in specific class of immunoglobulins | Sinus and lung infxns, milk allergies, and diarrhea, anaphylaxis on exposure to blood products with IgA | IgA deficiency most common. Failure to mature into plasma cells. Decreased secretory IgA |
| Common Variable Immunodeficiency (CVID) | Defect in B-cell maturation; many causes | Can be acquired in 20s-30s; increased risk of autoimmune disease, lymphoma, sinopulmonary infxns | Normal number of B-cells; decrease in plasma cells, immunoglobulin |
| Thymic aplasia (DiGeorge syndrome) | 22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches. | Tetany (hypocalcemia), recurrent viral/fungal infxns (T-cell deficiency), congenital heart and great vessel defects | Thymus and parathyroids fail to develop: decreased T-cells/PTH/Ca2+. Absent thymic shadow on CXR |
| IL-12R deficiency | decreased Th1 response. | Disseminated mycobacterial inxns | decreased IFN-g |
| Hyper-IgE syndrome (Job's syndrome) | Th cells fail to produce IFN-g leading to inability of neutrophils to respond to chemotactic stimuli | FATED (coarse facies, cold staph abscesses, retained primary teeth, increased IgE, dermatologic problems [eczema]) | increased IgE |
| Chronic mucocutaneous candiadiasis | T-cell dysfunction | Candida albicans infections of skin and mucous membranes | |
| Severe combined immunodeficiency (SCID) | Several types: defective IL-2R most common (XL), ADA, failure to synthesize MHC-II antigens | Recurrent viral, bacterial, fungal, protozoal infections due to both B- and T-cell deficiency. Tx: BMT (no allograft rejection) | decreased IL2R = decreased T-cell activation, increased adenine = toxic to B- and T-cells (decreased dNTPs and DNA synthesis) |
| Ataxia-telangiectasia | Defect in DNA repair enzymes | Triad: cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency | IgA deficiency |
| Wiskott-Aldrich Syndrome | XLR defect. Progressive deletion of B- and T-cells | Triad (TIE): Thrombocytopenic purpura, Infections, Eczema | increased IgE, IgA; decreased IgM |
| Leukocyte adhesion deficiency type-1 | Defect in LFA-1 integrin (CD18) protein on phagocytes | Recurrent bacterial infections, absent pus formation, delayed separation of umbilicus | Neutrophilia |
| Chediak-Higashi syndrome | Autosomal recessive; defect in microtubular function with phagocytosis | Recurrent pyogenic infections by staph, strep; partial albinism, peripheral neuropathy | |
| Chronic granulomatous diseases | Lack of NADPH oxidase, decreased ROS (ex. superoxide) and absent respiratory burst in neutrophils | increases susceptibility to catalase(+) organisms (eg. staph aureus, e. coli, aspergillus) | negative nitroblue tetrazolium reduction test. |
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