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23 Cards in this Set
- Front
- Back
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SCIDan
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ADA deficiency
PNP deficiency Autosomal SCID DNA repair deficiency X-linked SCID yc chain deficiency (only no T cells) |
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DiGoerge's Syndrome
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Thymic Aplasia, variable numbers of T and B cells, impaired generation of Treg, reduced humoral response
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Wiskott-Aldrich Syndrome
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Mutation in WASP gene, impaired T cell activation, No B cell response to polysaccharides, Recurrent encapsulated extracellular bacterial infection
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X-linked Agammaglobulinemia
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Mutation in BtK gene, no B cell (can't mature to Immature B cell), Recurrent infection with extracellular bacteria, viruses
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X-lnked Hyper IgM syndrome
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Mutation in CD40L gene
No Isotype switching Recurrent infection with extra cellular bacteria, pneumocystis carinii, Cryptosporidium parvum |
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Common variable immunodeficiency
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Unknown-MHC-linked abnormality
Defective IgA and IgG production Extracellular bacteria susceptibility |
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Selective IgA
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Unknown deficiency, No IgA, Respiratory infections increased
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X-linked Hypophydrotic Ectodermal Dysplasia with ID
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Mutation in NEMO gene = no isotype switching = recurrent infection, abnormal sweat gland/hair/tooth development
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MHC Class I deficiency
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Mutation in TAP gene, No surface MHC class I, No CD8 Tcell, chronic lung and skin inflation
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MHC Class II deficiency
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Mutation in CIITA gene, no expression of MHC class II gene, No CD4 T cell, recurrent infection
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Ataxia Telangiectasia
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Mutation in ATM gene
Failure to repair DNA damage Abnormal cell cycle progression Reuced T cell number Neurodegeneeration Premature aging Cancer Telangiectasia (dialation of capillary) |
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Bloom's Syndrome
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Mutation in DNA helicasee gene
Faileru to repair DNA damage Abnormal cell cycle progression Reduced antibody level Premature aging Cancer Photosensitivity |
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X-linked Lymphoproliferative syndrome
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Mutation in SAP gene
Enhanced IFNy production Th1 skewed immune response Uncontrolled EBV infection B cell lymphoma |
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Natural Killer Cell defect
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NK cell defect increased susceptibility to herpes infection
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C1,C2,C4 deficiency
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Immune complex dificiency
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C3 deficiencyble
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Susceptible to encapsulated bacteria
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C5-C9 deficiency
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Neiserra susceptibly
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Factor D deficiency
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Susceptibility to encapsulated bacteria and Neisseria but no immune complex formation
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Factor I
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Susceptibility to encapsulated bacteria
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DAF, CD59 deficiency
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Autoimmun
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Leukocyte adhesion deficiency
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Defective CD18, Widespread infections with capsulated bacteria
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G6PD deficiency
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Defective respiratory burst, impaird killing of bacteria
Chronic bacterial and fungal infections |
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Chediak Higashi syndrome
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Defect in vesicle fusion
Cannot fuse endosomes with lysosomes Persistant bacterial infections Granulomas Effects on many organs |
