Term
| Gargoyl face; double row of teeth |
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Definition
Job syndrome Staph abcesses Excess IgE, impaired neutrophil chemotaxis |
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Term
| Ezcema, Thrombocytopenia, Pyogenic infections |
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Definition
Wiscott-Aldridge Syndrome XLR defect in IgM production; abnormal T cells |
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Term
| Children sick within weeks of birth with a variety of infections |
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Definition
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Term
| truncal ataxia; recurrent respiratory infections |
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Definition
ataxia-telangiectasia deficit in DNA repair. thymic dysfunction- low T cells |
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Term
| Micrognathia, short philtrum, tetany, hypocalcemia |
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Definition
DiGeorge (22q11) Syndrome Low T cells |
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Term
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Definition
| lack of MHC II- no CD4 T's, CD8 okay |
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Term
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Definition
Burton's agammaglobulinemia XLR- tyrosine kinase deficiency IVIG tx |
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Term
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Definition
Hyper IgM syndrome CD40 defect. tx IVIG |
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Term
| Recurrent sinus infections & diarrhea, asthma. |
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Definition
Selective Ig deficiency problem is class switching IgG- bronchiectasis IgA- NO transfusions! |
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Term
Encapsulated infections starting age 15-35. Splenomegaly, lymphadenopathy |
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Definition
Common Variable Hypogammaglobulinemia normal B Cells defect in plasma cell differentiation |
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Term
| Recurrent Staph & Aspergillus infection |
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Definition
CGD (NADPH oxidase def) Tx: IFN-gamma |
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Term
| Gingivitis, poor wound healing, delayed cord separation |
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Definition
| Leukocyte adhesion deficiency- lack of integrins (I) or selectin receptors (II) |
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Term
Recurrent staph, strep + neuropathies "giant granules" |
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Definition
Chediak Higashi syndrome AR neutrophil tubule defect (no P-Lsome fusion) |
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Term
| Skin and mucous candidiasis infections |
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Definition
| Idiopathic T Cell deficiency |
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