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20. Chediak-Higashi Syndrome
12:00 AM | November 30, -0001Author: Adeleke
LYST gene defect, Infections, Neuropathy, Albinism, malfunctioning WBC with a diminished phagocytic capability, Defective phagocytosis in neutrophils, macrophages, dendritic cells, large granules in phagocytesContinue reading
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21. Chronic Granulomatous Disease
12:00 AM | November 30, -0001Author: Adeleke
Caused by multiple potential mutations in NADPH oxidase. NBT test negative, recurrent catalase positive infections, granuloma, colitis, recurrent fungal infectionsContinue reading
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22. DiGeorge Syndrome
12:00 AM | November 30, -0001Author: Adeleke
chromosome 22 (22q11) containing the T-box 1 (TBX1) gene deletion, embryonic thymic and parathyroid aplasia, No Tcells, Low Ig, cardiac abnormalityContinue reading
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23. MHC II difficiency
12:00 AM | November 30, -0001Author: Adeleke
CIITA (MHCII transactivator) on chromosome 16 or RFX (Regulatory factor X1) on chromosome 1 defect. double positive T-cells cannot undergo positive MHCII selection, Low Ig, CD8 cells normal, no CD4, graft vs host diseaseContinue reading
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24. MHC I deficiency
12:00 AM | November 30, -0001Author: Adeleke
TAP1,2 gene, B2microglobulin gene defect, CD4 cells normal, no CD8 cells, Normal Ig, Chronic viral infections, skin lesionsContinue reading
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25. Selective IgA deficiency
12:00 AM | November 30, -0001Author: Adeleke
no heavy chain class switching, low IgA, Sinopulmonary infections and UTIs, B cell defectContinue reading
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26. X linkes Agammaglobulinemia
12:00 AM | November 30, -0001Author: Adeleke
BTK defect, No CD19, no B cell, no IgContinue reading
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27. Hyper IgM syndrome
12:00 AM | November 30, -0001Author: Adeleke
CD40L deficiency, NEMO deficiency, AID deficiency for class switching, T cell defective cant stimulate B cell class switch, high IgMContinue reading
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28. NEMO Deficiency (X-linked hypohidrotic ectodermal dysplasia)
12:00 AM | November 30, -0001Author: Adeleke
defect on IKBKG gene, cant activate NK-kB pathway, high IgA or IgM other Ig low, have thickened skin, conical teeth, absence of sweat glands, and thin, sparse hairContinue reading
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29. Activation-induced Cytidine Deaminase (AID) Deficiency
12:00 AM | November 30, -0001Author: Adeleke
class switching gene, only IgMContinue reading