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Immuno 12 Deficiency

Immuno Ch 12 Acquired and Congenital Immunodeficiency

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