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14 Cards in this Set
- Front
- Back
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Bruton's Agammaglobulinemia
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X-LINKED immunodeficiency
B-CELL deficiency (low pan-Ig) Recurrent bacterial infections |
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X-linked gammaglobulinemia
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BRUTON'S agammaglobulinemia
B-CELL deficiency (low pan-Ig) Recurrent bacterial infections |
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DiGeorge
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No T-cells
No PTH Heart/great vessel defects Assoc. w/ 22q11 deletion |
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SCID
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Stem cell differentiation defect
Adenosine deaminase deficiency Recurrent viral and immunocompromised infections Chronic DIARRHEA Failure to thrive Live vaccines contraindicated |
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Mucocutaneous candidiasis
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Recurrent mucosal candida due to T-CELL dysfunction
Treat with antifungals |
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Wiskott Aldrich
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WAITER
Wiscott Aldrich Ig-M deficiency (high IgA, normal IgE) THROMBOCYTOPENIC PURPURA ECZEMA Recurrent pyogenic infection |
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Ataxia-Telangiectasia
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Ig-A deficiency (DNA repair defect)
ATAXIA, poor smooth pursuit Facial TELANGIECTASIA > 5 yo LYMPHOMA/LEUKEMIA risk AFP ↑ (like Fanconi's anemia) |
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IgA deficiency
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SINUS, lung infections
ASTHMA, allergies Anaphylaxis to blood transfusions |
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Chronic granulomatous disease
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NADPH oxidase deficiency
NitroBLUE NEGATIVE Rx: prophylactic BACTRIM Susceptible to CAKES: Candida, Aspergillus, Klebsiella, E. coli, Staph |
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Chediak-Higashi
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LYSOSOMAL transport (microtubule) defect
ALBINO NEURO defects Neutrophil GRANULES Autosomal recessive |
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Job's syndrome
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hyper-IgE syndrome (gamma-INF defect in T-cells)
high EOSINOPHILS COLD ABSCESS Coarse FACIES 2 rows of TEETH |
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Leukocyte adhesion defect
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Delayed umbilical separation
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Hyper-IgM
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CD40 ligand defect on CD4 T-cells
(can't class-switch - low other Ig's) Pyogenic infections |
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IL-12 receptor deficiency
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Mycobacterial infections (disseminated)
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