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SCID
- immunodeficiency, abnormal T cell count
- recurrent and bacterial/viral infections
- mutations: ZAP70, CD3, Rag
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DiGeorge
- mutation: 22q11, 10p
- immunodeficiency, poor thymocyte development
- cardiac: tetrology of fallot
- neuro: learning disability, schizophrenia
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Rag mutation
- no VDJ
- primary immunodeficiency
- no T/B cells
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ZAP70 mutation
- block in DP thymocytes
- no CD8 SP, low CD4 SP
- CD4s not functional
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B cell lymphoma
- crowd out other bone marrow cell types
- many B cells of 1 type of receptor
- recurrent infections
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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)
-
HLA polymorphism and disease
difficult to measure but they do occur
-
Aire mutation
- transcriptional regulator determing expression of peptides from many tissue specific antigens on thymic medullary cells
- mutation --> autoreactive T cells
-
Foxp3 mutation
- no Tregs
- leads to autoreactive T cells
-
chronic variable immunodeficiency disease (CVID)
mutation in ICOS, CD19
-
hyper IgM
mutation in CD40, CD40L, AID
-
x-linked agammaglobulin
mutations in Btk/mu, λ5, Igα, Igβ, BLNK
-
3 examples of 1' immunodeficiency diseases caused by mutations disrupting T cell signal 1
- CD3 mutation
- ZAP70 mutation
- STIM/Orai1 mutation
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FTY720 drug
- targets S1P1, T cell cannot egress to site of infection
- immunosuppressive
-
rapamycin
- blocks IL2-IL2 receptor (T cell growth signal)
- immunosuppressant
-
Cyclosporin
blocks cacineurin, part of signal 1 to T cell activating NFAT
-
chronic granulomatous disease (CGD)
- mutation in phox genes of the NADPH system
- lack oxidative burst in macrophages
-
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
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Cause of septic shock and outcome
- elevated TNF
- low cardiac output, thrombus formation in vessels, hypoglycemic
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Influenza virus
- surface structural proteins: M1, M2
- NP and HA molecule positions give nomenclature (H1N1)
- 8 different ssRNA strands encode surface proteins
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