Immuno- Clinical Correlation

  1. SCID
    • immunodeficiency, abnormal T cell count
    • recurrent and bacterial/viral infections
    • mutations: ZAP70, CD3, Rag
  2. DiGeorge
    • mutation: 22q11, 10p
    • immunodeficiency, poor thymocyte development
    • cardiac: tetrology of fallot
    • neuro: learning disability, schizophrenia
  3. Rag mutation
    • no VDJ
    • primary immunodeficiency
    • no T/B cells
  4. ZAP70 mutation
    • block in DP thymocytes
    • no CD8 SP, low CD4 SP
    • CD4s not functional
  5. B cell lymphoma
    • crowd out other bone marrow cell types
    • many B cells of 1 type of receptor
    • recurrent infections
  6. superantigens
    • bind directly to Class 2 MHC and TCRs without being processed
    • does not lead to productive immune response
    • staphylococcal enterotoxin
    • toxic shock syndrome toxin 1 (TSST1)
  7. HLA polymorphism and disease
    difficult to measure but they do occur
  8. Aire mutation
    • transcriptional regulator determing expression of peptides from many tissue specific antigens on thymic medullary cells
    • mutation --> autoreactive T cells
  9. Foxp3 mutation
    • no Tregs
    • leads to autoreactive T cells
  10. chronic variable immunodeficiency disease (CVID)
    mutation in ICOS, CD19
  11. hyper IgM
    mutation in CD40, CD40L, AID
  12. x-linked agammaglobulin
    mutations in Btk/mu, λ5, Igα, Igβ, BLNK
  13. 3 examples of 1' immunodeficiency diseases caused by mutations disrupting T cell signal 1
    • CD3 mutation
    • ZAP70 mutation
    • STIM/Orai1 mutation
  14. FTY720 drug
    • targets S1P1, T cell cannot egress to site of infection
    • immunosuppressive
  15. rapamycin
    • blocks IL2-IL2 receptor (T cell growth signal)
    • immunosuppressant
  16. Cyclosporin
    blocks cacineurin, part of signal 1 to T cell activating NFAT
  17. chronic granulomatous disease (CGD)
    • mutation in phox genes of the NADPH system
    • lack oxidative burst in macrophages
  18. granuloma
    • TB granuloma can be visualized by x-ray
    • inner core of mycobacteria TB, surrounded by multinucleated giant cells, epithelioid cell, and outer layer of T cells
  19. Cause of septic shock and outcome
    • elevated TNF
    • low cardiac output, thrombus formation in vessels, hypoglycemic
  20. Influenza virus
    • surface structural proteins: M1, M2
    • NP and HA molecule positions give nomenclature (H1N1)
    • 8 different ssRNA strands encode surface proteins
Card Set
Immuno- Clinical Correlation
Clinical Correlations of immunology course