Manage episode 289529358 series 2851469
Today we’ll be covering T-cell Immunodeficiencies, going along with this month’s theme, Immunology. If you haven’t listened to our podcast before, each week we have a case-based discussion about a medical topic to help you study for the pediatric medicine board exam. Episodes are released every weekend, and the case is then reviewed and reinforced on social media throughout the week.
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A previously healthy 5 year old male presents to the emergency room with 3 days of fever and decreased activity levels. On physical exam, there is cervical lymphadenopathy, evidence of pharyngitis with significant hyperemia, and hepatosplenomegaly present. Initial lab work showed leukopenia with a relative lymphopenia, thrombocytopenia, and significant transaminitis. He was admitted, and further work up revealed an elevated LDH and positive EBV acute infection with significant viral load. Throughout the following two weeks, he developed fulminant liver failure with significant coagulopathy and persistently increasing viremia and eventually passed away due to septicemia. Of the following, which diagnosis is most consistent with this presentation?
- Wiskott-Aldrich syndrome
- X-linked lymphoproliferative syndrome
- Chronic mucocutaneous candidiasis
- DiGeorge syndrome
- Zeta-associated protein 70 (ZAP-70) deficiency
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Intro/Outro- Hotshot by Scott Holmes
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