USMLE (Fach) / Immunology (Lektion)
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Severe combined immunodeficiency
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Several types including defective IL-2R gamma chain (most common, X-linked), adenosine deaminase deficiency (autosomal recessive)
- Failure to thrive- Chronic bacterial diarrhea- Chronic candidiases (eg, thrush)- Recurrent viral, bacterial, fungal, and protozoal infections
Findings:- ↓ T-cell receptor excision circles (TRECs)- Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry)
Treatment: - Avoid live vaccines- Give antimicrobial prophylaxis and IVIG- Bone marrow transplant curative (no concern for rejection)
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