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32 Cards in this Set
- Front
- Back
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What is congenital immunodeficiences?
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- genetic defects that lead to blocks in the maturation or function of different components of the immune system
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What happens in B cell deficiences, and what is a common infection?
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- reduced follicles/germinal centers
- reduced serum Ig - pyogenic bacterial infections |
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What happens in T cell deficiences, and what are common infections?
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-reduced T cell zones
- reduced DTH reactions - Defective T proliferation - Viral/intracellular microbial infections: virus-associated malignancies |
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Congenital Immunodeficiencies are generally caused by defects in?
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- lymphocyte maturation
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What happens if there is an ADA or PNP deficiencies?
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- Stem cells cannot change into pro B/T cells (SCIDs)
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What happens if there is a yc deficiency?
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- stem cells cannot change to pro-t cells (X-linked SCID)
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What happens if there is a lack of a thymus, as in DiGeorge syndrome?
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- stem cell cannot change to pro-t cell
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What happens if there is a RAG deficiency?
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- pro t/b cells cannot change into pre b/t cells (SCID)
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What happens in Btk deficiency?
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- pre B cannot change into immature B cell (X-linked agammaglobulinemia)
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X-linked SCID is the cause of what percent of total SCID?
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- 50%
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X-linked SCID causes what deficiencies and how?
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- decreased T, normal/increased B, reduced serum Ig, low NK
- mutations in cytokine receptor y, defective T maturation b/c no IL-7 |
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Autosomal recessive SCID causes what deficiencies and how? (due to ADA or PNP deficiency)
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- decrease in T/B, reduced serum Ig (if ADA deficient)
- normal B and serum Ig if PNP deficiency - accumulation of purine metabolites in lymphocytes |
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Autosomal recessive SCID causes what deficiencies and how?
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- decreased T, B, serum Ig
- defective maturation of T/B, possible RAG mutation |
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What are 3 B cell immunodeficiences?
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- X-linked agammaglobulinemia (Bruton's)
- Ig heavy chain deletions - Seelctive IgA deficiency |
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What is deficient and how in X-linked agammaglobulinemia?
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- decreased in all serum Ig, reduced B
- block in maturation beyond pre-B from tyrosine kinase mutation (X-linked) |
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What is deficient and how in Ig heavy chain deletions?
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- IgG, IgA, IgE may all or some be missing
- chromosomal deletion at heavy chain locus (14q32) |
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What are the effects in Selective IgA deficiency?
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- recurrent URIs
- allergic diseases - autoimmune - blood transfusion reactions |
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What is deficient in DIGeorge syndrome and mechanism of defect?
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- decreased T, normal B, normal/decreased serum Ig
- thymic hypoplasia and parathyroid hypoplasia |
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What happens in X-linked hyper-IgM syndrome and how?
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- defects in Td B cells and macro activation
- CD40L mutation |
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What is deficient in common variable immunodeficiency and how?
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- low selective isotypes/subtypes
- susceptible to bacteria/no problems - mutations in B receptor for grow factors/costimulators |
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What happens in defective class II MHC expression and how?
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- no class II MHC and impaired CD4 activation
- gene mutations for MHC class II TF |
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What happens in defects in T cell receptor complex expression/signaling and how?
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- decreased T cells, ratios of T cells are off
- mutations/deletions in CD3 proteins, ZAP-70 |
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Where do AID mutations affect the T cell?
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- after Th binds to B cell, B cannot produce plasma cell
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What causes Autosomal Hyper-IgM syndrome and the effects
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- Mutation in AID
- B cell deficient |
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What happens in chronic granulomatous disease and how?
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- defective ROS production, over-reactive T cells
- gene mutation for enzyme |
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What is leukocyte adhesion deficiency-1 and how?
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- absent/deficient expression of Beta 2 integrins
- mutations in gene for Beta 2 integrins |
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What happens in leukocyte adhesion deficiency-2 and how?
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- absent/deficient leukocyte ligand expression for E/P selections so leukocytes don't migrate into tx
- mutation in genes for E/P selecting ligands |
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What happens in complement C3 deficiency and how?
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- complement cascade defect
- C3 mutation |
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What happens in complement C2,4 deficiency and how?
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- no classical complement pathway and cannot clear immune complexes
- C2/4 mutation |
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What happens in Chediak-Higashi syndrome and how?
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- no lysosomal function in neutrophilds/macrophages/DC
- granules don't function in NK cells - mutation in gene for lysosomal trafficking |
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What happens and how in Wiskott Aldrich syndrome?
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- problem with cytoskeletal organization/function, defects in T, B, platelets, eczema
- WASP mutation, no hematopoietic cell dvp (x linked) |
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What happens in ataxia telangiectasia and how?
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- gait abnormalities, vascular malformations, immunodeficiency
- mutation in DNA repair |
