click below
click below
Normal Size Small Size show me how
Immuno 12 Deficiency
Immuno Ch 12 Acquired and Congenital Immunodeficiency
Question | Answer |
---|---|
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 |