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4 Cards in this Set
- Front
- Back
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WAS
Wiskott-Aldrich syndrome (XR) "Lousy GM and high vowels causes WATER in the AM" |
-Mutation in WAS gene (XR) --> T-cells can't reorganize actin cytoskeleton
-Low to normal |
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Ataxia-telangiectasia
No taxes --> ATM defect |
-Defects in ATM gene --> DNA double strand breaks, leading to cell cycle arrest
-High Alpha Fetoprotein (AFP) -Low IgA/G/E, lymphopenia -Cerebellar atrophy -Triad: 3 A's -Ataxia (Cerebellar defects) -Spider Angiomas (telangiectasia) |
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Hyper-IgM syndrome (XR)
"Mike acts hyper, so he can't get CD 40" |
-Hyper-IgM most commonly due to defective CD40 L on Th cells --> class-switching defect.
-Or defective CD40 on B cells -High IgM, very low IgA/G/E -Severe pyogenic infections early in life (often at mucosal sites – low IgA) -opportunistic infection with Pneumocystis, Cryptosporidium, CMV |
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SCID
-Severe combined immunodeficiency -Bubble boy "I got that skid from CAM" -Cytokine receptor (IL-2R) defects – Cam: "I love to roar" -ADA deficiency -MHC class II deficiency |
-Most common acid is defective IL-2R (gamma chain) – X-linked
-Also adenosine deaminase (ADA) deficiency – toxic buildup of adenosine/deoxyadenosine kills lymphocytes -MHC class II deficiency – needed for CD4+ helper T cell activation by APCs -Decreased T-cell receptor excision circles (TRECs – circles of DNA made in T-cells while in thymus) -No thymic shadow (CXR) -No germinal centers (lymph node biopsy) -No T cells (flow cytometery) -Failure to thrive, chronic diarrhea, thrush -Recurrent virus/fungus ( no T) and bacteria/protozoa (no B) infections -Treat with bubble and bone marrow transplant (new hematopoietic stem cells to make lymphocytes) |
