Term
Bruton's Agammaglobulinemia
defect |
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Definition
| X-linked recessive loss of BTK (tyrosine kinase) such that pre-B cells don't become immature B cells |
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Term
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Definition
| defective CD40L on Th cells so B cells can't class switch |
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Term
Selective Ig deficiency
defect |
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Definition
| Defect in isotype switching so lose one class of immunoglobulins |
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Term
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Definition
| Defect in B cell maturation |
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Term
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Definition
| 22q11 deletion leads to failure to develop 3rd and 4th pharyngeal pouches |
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Term
IL-12 receptor deficiency
defect |
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Definition
| unable to mount Th1 response |
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Term
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Definition
| Th cells fail to produce IFN-g and thus unable to have neutrophils respond to chemotactic stimuli |
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Term
Chronic mucocutaneous candidiasis
defect |
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Definition
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Term
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Definition
Multiple types
Most common = X-linked IL-2 receptor defect
adenosine deaminase deficiency
failure to synthesize MHC 2 |
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Term
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Definition
| Defect in ATM gene which codes for DNA repair enzymes |
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Term
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Definition
| X-linked recessive defect leading to progressive deletion of T and B cells |
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Term
| Leukocyte adhesion deficiency type 1 |
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Definition
| Defect in LFA-1 integrin (CD18) on phagocytes |
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Term
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Definition
| Autosomal recessive defect in lysosomal regulator trafficking gene (LYST) leading to microtubule dysfunction in paho-lyso fusion |
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Term
| Chronic Granulomatous Disease |
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Definition
| lack NADPH oxidase so no ROS/respiratory bust in neutrophils |
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