Immuno Ch 12 Acquired and Congenital Immunodeficiency
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| B-cell def. : infections seen? | Pyogenic bacteria
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| T-cell def.: infections seen? | viral and intracellular microbes; Virus-associated malignancies
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| 50% of X-linked SCID is caused by mutations to what? | common γ chain
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| common γ chain is involved in binding which ILs? | IL-2, 4, 7, 9, 15
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| IL-7 does what? | encourages maturation of T-cells
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| What IL is associated with NK cell proliferation? | IL-15
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| 50% of autosomal SCID is caused by mutations in what? | ADA enzyme
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| What does ADA do? | breaksdown purines
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| Most common syndrome of B-cell maturation block is? | X-linked agammaglobulinemia / Bruton’s agammaglobulinemia
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| Genetic cause of X-linked agammaglobulinemia? | mutation of BtK gene
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| ¼ of Bruton’s Pt’s experience what? | autoimmune disease, mainly arthritis
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| Decrease in all Igs and marked reduction in peripheral mature B-cells. Dx? Genetic cause? | Bruton’s X-linked mutation in BtK
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| Decrease in all T-cells; normal B-cells; Normal or slightly decreased Igs Dx? | DiGeorge Syndrome
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| Extremely high levels of IgM. Dx? What else do you see? Genetic cause? | X-linked hyper-IgM syndrome; absent IgG or IgA; mutation in the CD40Ligand
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| Lack of CD4+ T-cell activation Dx? Mutation? | Bare-lymphocyte syndrome; mutation in MHC II gene
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| Mutation in phagocyte oxidase causes what? | Chronic granulomatous disease.
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| Absent β2-integrin causes what? | defective leukocyte migration; Leukocyte Adhesion Deficiency-1; mutation to CD18 gene
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| Absent E- or P-selectin | Leukocyte Adhesion Deficiency-2
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| Eczema, reduced platelets, immunodeficient Pt. Dx? | Wiskott-Aldrich syndrome
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| Gait abnormality, vascular malformations, immunodeficient Pt. Dx? | Ataxia-telangiectasia
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| Recurrent bacterial infxs, phagocytes and NK cells affected. Dx? And cause? | Chediak-Higashi syndrome; lysosomal granule dysfunction.
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| HIV binds what on cells? And what cells? | uses gp120-> CD4(tcell) +CXCR4(tcell) or CCR5(macrophage)
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| Mutation of this allows individuals to remain disease free for years after HIV infection | CCR5
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| 2 most common cancers in HIV and virus associated | B-cell lymphoma/ EBV; Kaposi;s sarcoma/ herpesvirus
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