Term
| XR defect in tyrosine kinase gene w/ low levels of ALL IgG; assoc with recurrent bacterial inf AFTER 6 months; boys |
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Definition
| Bruton's agammaglobulinemia |
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Term
| Thymus and parathyroids fail to develop b/c of failure of 3rd and 4th pharyngeal pouches; tetany due to hypocalcemia; recurrent viral and fungal inf; heart and great vessel defects; 22q11 |
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Definition
| Thymic aplasia/DiGeorge Syndrome |
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Term
| Defect in early stem cell development; recurrent bacterial, fungal, viral, and protozoal inf; defective IL-2 receptors or ADA deficiency or failure to synth MHC II Ag |
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Definition
| Severe combined immunodeficiency (SCID) |
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Term
| Acquired deficiency of all Igs due to a failure of B cell maturation; decreased plasma cells; normal B and T cell levels; recurrent bacterial infections |
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Definition
| common variable immunodeficiency |
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Term
| Disseminated mycoplasma infections |
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Definition
| Decreased activation of T cells (IL-12 receptor deficiency) |
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Term
| defect in CD40 ligand on CD3+4+ --> inability of class switch; presents early in life wiht pyogenic infections, high IgM, low IgG, IgA, IgE |
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Definition
| Hyper-IgM syndrome (decreased activation of B cells) |
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Term
| X-linked defect in the ability to mount and IgM response to capsular polysaccarides of bacteria; increased IgA, nl IgE, low IgM; recurrent pyogenic Infection, thrombocytopenic Purpura, Eczema |
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Definition
| Wiskott-Aldrich Syndrome (decreased activation of B cells) |
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Term
| Failure of IFN gamma production by helper T cells; PMN fail to response to chemotactic stimuli; recurrent "cold", staph abscesses, eczema, coarse facies, retained primary teeth and high IgE |
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Definition
| Job's syndrome (Dec activation of Macrophages) |
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Term
| Defect in LFA-1 adhesion proteins on phagocytes; early severe pyogenic and fungal infection with delayed separation of umbilicus |
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Definition
| leukocyte adhesion deficiency syndrome |
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Term
| AR defect in microtubular function and lyosomal emyptying of phagocytic cells; presents with recurrent phagocytic inf by staph and strep, partial albinism, adn peripheral neuropathy |
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Definition
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Term
| Defect in phagocytosis of PMNs owing to lack of NADPH oxidase activity; marked susceptibility to opporunitistic infection with bacteria (staph, e. col, and aspergillus); confirm dz with nitroblue tetrazolium dye reduction test |
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Definition
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Term
| T-cell dysfunction against candida albicans that presents with skin and mucosal membrane candida infections |
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Definition
| chronic mucocutaneous candidiasis (T cell dysfxn) |
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Term
| deficiency in a specific class of Igs due to a defect in isotype switching; selective IgA is most common; sinus and lung inf, milk allergies and diarrhea |
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Definition
| Selective Immunoglobulin deficiency (B cell dysfxn) |
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Term
| defect in DNA repair enzymes with IgA deficiency; cerebellar problems adn spider angiomas (telangectasias) |
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Definition
| ataxia-telangeictasia (B cell dysfxn) |
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