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X-linked hyper IgM syndrome?
Can't produce Plasma cells or macrophages
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CD affected by X-linked hyper IgM syndrome?
CD40
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AID mutations, autosomal hyper IgM syndrome?
Can't mature B-cells to Plasma cells
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CGD?
Macrophages do not produce RO species = fibrous tissue laid down with T-cells and fibrocartilage
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LAD1?
Beta-2 integrins shot so binding does not occur
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What CD is affected in LAD1?
CD18
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LAD2?
Sialyl-Lewis X component of E/P slectin ligands causes inability of lymphocytes to migrate
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C3 deficiency?
Deficient complement cascade
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Complement C2, C4 deficiency?
- Can't activate classical pathway
- no clearing of pathogens
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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
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X-linked aggamaglobulinemia?
- BtK deficiency
- can't produce immature B-cells
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DiGeorge syndrome?
- Lack of thymus
- ineffective T-cell maturation
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TAP-1/TAP-2 deficiency?
inefficient MHCII
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Deficient CD132?
inefficient gamma-chain on cytokine receptors
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What cytokines are affected by Deficient CD132?
IL-2,4,7,9,15
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T, NK and B cells for CD 132?
- T/NK cells are not present
- B-cells are non-functional
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Adenosine deaminase (ADA)?
- can't produce purines
- buildup of toxic metabolites and inhibition of DNA synthesis
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JAK3 deficiency?
- No JAK-STAT pathway
- no transcription factors for gene regulation
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What cells are damaged b/c of JAK3 deficiency?
B and T-cells
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Recombination activating gene (RAG) deficiency?
- inhibit T and B cell development via lack of TCR and Ig's
- NK cells not affected
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Wiskott-Aldrich syndrome (WAS)?
- ineffective WASP protein
- ineffective hematopoiesis
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What cells are affected by WAS?
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symptoms of WAS?
- thrombocytopoenia
- recurrent infections
- decreased IgM
- Normal/Increased IgA, IgG, IgE
- Eczyma
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Ataxia-telangiectasia?
- Mutation in ATM kinase
- lack of DNA repair
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Symptoms of AT?
- Sinus/respiratory infection
- Abnormal gait
- dilated blood vessels
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Antibodies affected by AT?
- IgA, IgE, IgG all decreased
- IgM normal
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Hyper IgE syndrome?
Lack of STAT3 and lack of IL-12 production
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Symptoms of Hyper IgE syndrome?
- Lack of phagocytosis
- Th2 overproduction = high IgE production
- DTH deficits
- pneumonia, abscesses, facial, skeletal, and dental abnormalities
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