Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
No NADPH Oxidase (usually XLR)
Recurrent infections causing abscesses
Elevated Igs
Elevated WBC
Infections by catalse-positive bacteria |
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Term
Neutropenia
Cause
Which infections
Tx |
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Definition
Gram + and - bacteria, fungi (opportunistic infections)
Systemic infections common: septicemia, cllulitis, pneumonia
G-CSF tx |
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Term
XLA
Cause
Characteristics
Types of infections
Tx |
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Definition
Mutation in BTK gene (XLR)
Elevated WBC, Low Igs, no B cells
Recurrent bacterial infections (sinusitis, otitis, bronchitis) with encapsulated bacteria b/c no opsonization by IgG
IV IG tx |
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Term
DiGeorge
Cause
Characteristics
Infections |
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Definition
Deletion in long arm C22
Hypoplasia of thymus
Normal B cells and Ab production
Decreased mature T cells
Systemic fungal and viral infections |
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Term
XHIGM
Cause
Characteristics
Infections
Tx |
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Definition
Mutation in CD40L gene (XLR)
CD40L on T Ly needed to induce B cell class switching and interactions with MPs and DCs
Normal levels of B and T cells, but high IgM and reduced IgG, IgA, IgE
IV IG Tx |
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Term
LAD I
Cause
Characteristics |
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Definition
Defect in CD18 gene (B2 integrin)
Problems in adhesion and cell signalling
Elevated WBC, esp. N b/c can't exit blood
Recurrent bacterial infections w/no pus |
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