Term
Bruton's Agammaglobulinemia
Presentation |
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Definition
| Recurrent bacterial infections after 6 months old (when mom's Ig is gone) because bacteria can't be opsonized well |
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Term
Hyper IgM syndrome
presentation |
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Definition
| Severe pyogenic infections early in life |
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Term
Selective Ig Deficiency
Presentation |
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Definition
Most commonly:
Sinus and lung infections
milk allergies
diarrhea
anaphylaxis on exposure to IgA |
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Term
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Definition
Might not present until 20s or 30s
Increased risk of autoimmunity, lymphoma, and sinopulmonary infections |
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Term
DiGeorge Syndrome
Presentation |
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Definition
Tetany (hypocalcemia)
Recurrent viral/fungal infections
Congenital heart defect |
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Term
IL-12 receptor deficiency
Presentation |
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Definition
| Disseminated mycobacterial infections |
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Term
Job's Syndrome
Presentation |
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Definition
FATED
coarse Face
Abscesses (staph and without inflammation)
baby Teeth didn't fall out
increased IgE
Derm problem (eczema) |
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Term
Chronic mucocutaneous candidiasis
presentation |
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Definition
| Candida infections on skin and mucous membranes |
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Term
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Definition
Recurrent viral, bacterial, fungal and protozoal infections
No thymic shadow on x-ray
no germinal centers on biopsy or B cells in blood smear |
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Term
Ataxia-Telangiectasia
presentation |
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Definition
Cerebellar defect
Spider angiomas
IgA deficiency |
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Term
Wiskott-Aldrich Syndrome
presentation |
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Definition
TIE
Thrombocytopenic purpura
Infections
Eczema |
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Term
Leukocyte adhesion deficiency
presentation |
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Definition
Recurrent bacterial infections without any pus
delayed separation of the umbilicus |
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Term
Chediak-Higashi syndrome
presentation |
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Definition
Recurrent pyogenic infections by staph and strep
partial albinism
peripheral neuropathy |
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Term
Chronic granulomatous disease
presentation |
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Definition
| Repeated infections with catalase positive bugs (Staph, E. Coli, Aspergillus, Pseudomonas, Serratia) |
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