A challenging differential diagnosis in a patient with autosomal dominant STAT3 deficiency

Pediatr Pulmonol. 2023 Feb;58(2):585-591. doi: 10.1002/ppul.26212. Epub 2022 Nov 2.

Abstract

Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immunodeficiency caused by loss-of-function (LOF) mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene. In these patients, performing a correct differential diagnosis of pulmonary infections is difficult and challenging, as they usually have atypical presentations. However, establishing a correct diagnostic and therapeutic approach is essential, as pulmonary complications are responsible for high morbidity and mortality rates in these patients. We report the case of a teenage girl with AD-HIES and respiratory symptoms and fever in whom performing a correct differential diagnosis was challenging.

Keywords: aspergillosis; corticosteroids; hyper IgE; immunodeficiency.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Female
  • Humans
  • Job Syndrome* / complications
  • Job Syndrome* / diagnosis
  • Job Syndrome* / genetics
  • Mutation
  • STAT3 Transcription Factor* / genetics

Substances

  • STAT3 Transcription Factor
  • STAT3 protein, human