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14 Cards in this Set
- Front
- Back
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X-linked (Bruton's) agammaglobulinemia |
XR. Defect in BTK, a tyrosine kinase gene resulting in no B cell maturation Recurrent bacterial infections after 6 months (after decreased maternal IgG) due to opsonization defect Normal pro-B, decreased number of B cells, decreased immunoglobulins of all classes |
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Selective IgA deficiency |
Unknown defect. Most common primary immunodeficiency Majority asymptomatic. Possibly more infections/autoimmune disease, anaphylaxis to IgA containing blood products |
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Common variable immunodeficiency |
Defect in B cell maturation, many causes Can be acquired in 20s-30s. Increased risk of autoimmune disease, lymphoma, sinopulmonary infections Normal number of B cells, decreased plasma cells and immunoglobulin |
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Thymic aplasia (DiGeorge syndrome) |
22q11 deletion, failure to develop 3rd and 4th pharyngeal pouches Tetany (hypocalcemia), recurrent viral/fungal infections (T cell deficiency), congenital heart and great vessel defects Thymus and parathyroid fail to develop, decreased T cells, decreased PTH, decreased Ca2+, absent thymic shadow |
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IL-12 receptor deficiency |
Decreased Th1 response Disseminated mycobacterial infections, decreased IFN-gamma |
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Hyper-IgE syndrome (Job's syndrome) |
Th1 cells fail to produce IFN-GAMMA, inability of neutrophils to respond to chemotactic stimuli Coarse facies, cold staph abscesses, retained primary teeth, increased IgE, dermatologic problems (eczema) |
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Chronic mucocutaneous candidiasis |
T cell dysfunction Candida infections of skin and mucous membranes |
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Severe combined immunodeficiency |
Defective IL-2 receptor most common type, adenosine deaminase deficiency Failure to thrive. Recurrent viral, bacterial, fungal, and protozoal infections. Absence of thymic shadow, germinal centers, B cells, and T cells Treat with bone marrow transplant |
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Ataxia-telangiectasia |
Defects in ATM gene which codes for DNA repair enzymes Cerebellar defects, spider angiomas, IgA deficiency Increased AFP |
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Hyper-IgM syndrome |
Defective CD40L on Th cells causing inability to class switch Severe pyogenic infections early in life Increased IgM. Decreased IgG, IgA, IgE |
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Wiskott-Aldrich syndrome |
WAS gene on X chromosome causing inability to reorganize actin cytoskeleton Thrombocytopenic purpura, infections, eczema Increased IgE, IgA. Decreased IgM. Thrombocytopenia |
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Leukocyte adhesion deficiency (type 1) |
Defect in LFA-1 integrin (CD18) protein on phagocytes Recurrent bacterial infections, absent pus formation, delayed separation of umbilical cord Neutrophilia |
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Chédiak-Higashi syndrome |
AR. Defect in lysosomal trafficking regulator gene (LYST). Microtubule disfunction in phagosome-lysosome fusion Recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy Giant granules in neutrophils |
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Chronic granulomatous disease |
Lack of NADPH oxidase causing decrease in reactive oxygen species and absent respiratory burst in neutrophils Increased susceptibility to catalase positive organisms Abnormal dihydrorhodamine flow cytometry test |
