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Article

Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1).

BMJ case reports - 22 Apr 2020

Marinelli Lisa, Ristagno Elizabeth, Fischer Philip, Abraham Roshini, Joshi Avni

Abstract excerpt

An adolescent male with a history of autoimmune enteropathy, autoimmune hypothyroidism, aphthous stomatitis and recurrent oral Candida infections only in the setting of curative antibiotic courses presented with cryptococcal pneumonia and perihilar adenitis, which was successfully treated with antifungal therapy. The patient had a complex history with several immunological anomalies. Whole exome sequencing...

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Identifiers

PMID: 32327459
DOI: 10.1136/bcr-2019-234120
PMCID: PMC7202788

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