-
Bruton's agammaglobulinemia
- Boys, decreased CD19, decreased all Igs
- Recurrent bacterial infections
- Tx - IVIg
-
Digeorge Syndrome
- No CD3
- No PTH
- Recurrent viral/fungal infections
- 22q11 deficiency
-
SCID
- Adenosine deaminase deficiency
- Recurrent infec, chronic diarrhea, failure to thrive
- NO LIVE VACCINES
-
Chronic Mucocutaneous Candidiasis
- Recurrent candida
- T cell dysfxn
-
Wiskott Aldrich
- WAITER
- immunodeficiency, thrombocytopenia (purpura), eczema, recurrent pyogenic infections
-
Ataxia-telangiectasia
- IgA deficiency
- Cerebellar ataxia, poor smooth eye pursuit
- Increased cancer (lymphoma, leukemia)
-
IgA deficiency
- asthma/allergies and sinus/lung infections
- possible anaphylaxis to blood transfusion
-
Chronic granulomatous disease
- no NAPDPH oxidase activity
- NBT dye does not change color
- Infec with catalase positive: staph, e. coli, candida
- Tx - TMP-SMX
-
Chediak-Higashi Disease
- defective lysosomal transport
- giant cytoplasmic granules in PMNs
- partial albinism
-
Jobs syndrome
- Hyperimmunoglobulin E syndrome
- Increased IgE and eosinophils
- eczema, staph aureus abscesses, course facial features
-
Leukocyte adhesion deficiency syndrome
- Phagocytes cannot exit circulation
- Delayed separation of umbilicus
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