Immuno Lec 28.txt

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Immuno Lec 28.txt
2011-05-12 19:45:55
Immuno immunodeficiencies

Immuno 28 immunodeficiencies
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  1. X-linked hyper IgM syndrome?
    Can't produce Plasma cells or macrophages
  2. CD affected by X-linked hyper IgM syndrome?
  3. AID mutations, autosomal hyper IgM syndrome?
    Can't mature B-cells to Plasma cells
  4. CGD?
    Macrophages do not produce RO species = fibrous tissue laid down with T-cells and fibrocartilage
  5. LAD1?
    Beta-2 integrins shot so binding does not occur
  6. What CD is affected in LAD1?
  7. LAD2?
    Sialyl-Lewis X component of E/P slectin ligands causes inability of lymphocytes to migrate
  8. C3 deficiency?
    Deficient complement cascade
  9. Complement C2, C4 deficiency?
    • Can't activate classical pathway
    • no clearing of pathogens
  10. Chediak-higashi syndrome?
    • Defective LYST gene
    • Neutrophils, marophages, dendrites and NK cells do not function correctly
    • impaird binding of proteins and vesicles as well as granules
  11. X-linked aggamaglobulinemia?
    • BtK deficiency
    • can't produce immature B-cells
  12. DiGeorge syndrome?
    • Lack of thymus
    • ineffective T-cell maturation
  13. TAP-1/TAP-2 deficiency?
    inefficient MHCII
  14. Deficient CD132?
    inefficient gamma-chain on cytokine receptors
  15. What cytokines are affected by Deficient CD132?
  16. T, NK and B cells for CD 132?
    • T/NK cells are not present
    • B-cells are non-functional
  17. Adenosine deaminase (ADA)?
    • can't produce purines
    • buildup of toxic metabolites and inhibition of DNA synthesis
  18. JAK3 deficiency?
    • No JAK-STAT pathway
    • no transcription factors for gene regulation
  19. What cells are damaged b/c of JAK3 deficiency?
    B and T-cells
  20. Recombination activating gene (RAG) deficiency?
    • inhibit T and B cell development via lack of TCR and Ig's
    • NK cells not affected
  21. Wiskott-Aldrich syndrome (WAS)?
    • ineffective WASP protein
    • ineffective hematopoiesis
  22. What cells are affected by WAS?
    • RBC
    • Platelets
  23. symptoms of WAS?
    • thrombocytopoenia
    • recurrent infections
    • decreased IgM
    • Normal/Increased IgA, IgG, IgE
    • Eczyma
  24. Ataxia-telangiectasia?
    • Mutation in ATM kinase
    • lack of DNA repair
  25. Symptoms of AT?
    • Sinus/respiratory infection
    • Abnormal gait
    • dilated blood vessels
  26. Antibodies affected by AT?
    • IgA, IgE, IgG all decreased
    • IgM normal
  27. Hyper IgE syndrome?
    Lack of STAT3 and lack of IL-12 production
  28. Symptoms of Hyper IgE syndrome?
    • Lack of phagocytosis
    • Th2 overproduction = high IgE production
    • DTH deficits
    • pneumonia, abscesses, facial, skeletal, and dental abnormalities