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13 Cards in this Set
- Front
- Back
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recurrent bacterial infections after 6 mo of age (when levels of maternal IgG decline)
Occurs in Boys- X-linked |
Bruton's agammaglobulinemia
Decreased B cell prod defect in Tyrosine kinase gene assoc with low levels of all Ig |
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tetany, viral and fungal infections, congenital defects of heart and great vessels
22q11 deletion |
DiGeorge Syndrome
Thymus and parathyroids fail to develop 2/2 failure of development of the 3rd and 4th pharyngeal pouches |
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recurrent viral, bacterial, fungal and protazoal infection
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SCID
Def of B and T cells may have many causes failure to synth MHC II ag, defective IL-2 R adn adenosine deaminase deficiency |
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disseminated mycobacterial infections
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Decreased activation of Tcells
IL 12 receptor defeciency |
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presents early in life with severe pyogenic infections
High IgM very low IgG, IgA, IgE |
Hyper IgM syndrome, decreased activation of B cells
Defect in CD40 ligand on CD4 T helper cells leads to the inability to class switch |
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elevated IgA, normal IgE, low IgM
recurrent pyogenic infections, thrombocytopenic purpura, eczema |
Wiskott-Aldrich Syndrome, decreased B cell activation
Xlinked deficiency in the ability to mount IgM response to capsular polysaccharides of bacteria Die early--early from infection or Non-Hodgekin lymphoma |
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presents early with severe pyogenic and fungal infections and delayed separation of the umbilicus
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Leukocyte Adhesion deficiency syndrome
Defect in LFA-1 adhesion proteins on phagocytes |
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p/w recurrent cold staph abscesses, eczema, coarse facies, retained primary teeth, high levels of IgE
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Job's Syndrome-decreased activation of macs 2/2 failure of gamma interferon by helper T cells
neutrophils fail to respond to chemotactic stimuli |
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recurrent pyogenic infections by staph and strep, partial albinism, peripheral neuropathy
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Chediak-Higashi Disease
AR defect in microtubule function and lysosomal emptying of phagocytic cells |
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marked susceptibility to to opportunistic infections with bacteria, especially S. aureus, E.coli, aspergillus.
Negative nitroblue tetrazolium dye reduction test |
Chronic Granulomatous Disease
NADPH oxidase deficiency |
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skin and mucous membrane candida infections
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chronic mucocutaneous candidiasis
T-cell dysfunction specifically against Candida albicans |
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cerebellar problems and spider angiomas
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Ataxia-Telangectasia
Defect in DNA repair enzymes with associated IgA deficiency |
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normal number of circulating B cells, decreased plasma cells, decreased Ig, can be acquired in 20s or 30s
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Common Variable Immune Deficiency
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