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8 Cards in this Set
- Front
- Back
- 3rd side (hint)
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3 etiologies of a "bubble boy" syndrome
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Syndrome produced by one of the following:
(a) Cytokine receptor defect (esp IL-2 receptor) (b) Adenosine deaminase deficiency (c) MHC II deficiency |
SCID
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What is the etiology of the following presentation:
-Child greater than 6 mos -Recurrent bacterial, enteroviral (e.g. polio or coxsackie) and giardia infections |
What is the presentation of:
Bruton's Tyrosine Kinase mutation (X-linked) |
Labs:
-Complete lack of Igs -B-cells stuck in pre and pro B cell stages |
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What is the etiology of the following presentation:
-Patient had recurrent bacterial, enterovirus, and giardia infections starting in late childhood -Increased risk of lymphoma and autoimmune diseases later in life |
What is the presentation of:
CVID |
Labs:
Low Igs |
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What is the etiology of the following presentation:
Pts has higher risk of developing mucosal infections and celiac disease |
What is the presentation of the follow defect:
IgA Deficiency |
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What is the etiology of the following presentation:
Recurrent pyogenic and mucosal infections |
What is the presentation of the follow defect:
Mutated CD40L (on Th cells) or CD40 (on B-cells) |
Labs:
Low IgG, IgA, and IgE High IgM |
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What is the etiology of the following presentation:
Thrombocytopenia + Eczema + recurrent infections |
WASP gene defect (X - linked)
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What is the etiology of the following presentation:
Recurrent Neisseria infections |
C5-C9 complement deficiency
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What is the etiology of the following presentation:
Hereditary angioedema - edema of the skin and mucosal surfaces (esp periorbital) |
C1 inhibitor deficiency
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