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

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Rare disease
Case report
Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)
  1. Lisa Marinelli1,
  2. Elizabeth Ristagno2,
  3. Philip Fischer2,
  4. Roshini Abraham3 and
  5. Avni Joshi2
  1. 1Department of Pathology, San Antonio Military Medical Center, Fort Sam Houston, Texas, USA
  2. 2Department of Pediatric and Adolescent Medicine, Mayo Clinic Minnesota, Rochester, Minnesota, USA
  3. 3Department of Pathology, Nationwide Children's Hospital, Columbus, Ohio, USA
  1. Correspondence to Dr Avni Joshi; joshi.avni{at}mayo.edu

Abstract

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 revealed a known STAT1 pathogenic variant, associated with gain of function (GOF). This case expands our understanding of the broad clinical phenotype manifested by STAT1 GOF and emphasises the importance of consideration of this diagnosis in patients presenting with opportunistic infections and autoimmunity.

  • Cryptococcus
  • infections
  • immunological products and vaccines
  • radiology
  • drugs: respiratory system

http://dx.doi.org/10.1136/bcr-2019-234120

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    Footnotes

    • Twitter @ERistagno

    • Contributors All authors have contributed equally to the manuscript. AJ detailed contribution statement: LM: planning, conduct, design, data gathering and manuscript writing. ER, PF and RA: conduct, design and manuscript writing. AJ: conduct, design, interpretation and manuscript writing.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.