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

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

Blanca Bravo-Queipo-de-Llano  1 , Daniel Bonet  1 , Teresa Del Rosal  1   2   3 , Carmen Cámara  4 , Marta Ruiz de Valbuena  5 , Ana Pérez  6 , Carlos D Grasa  1   2   7 , Ana Méndez-Echevarría  1   2   7
Affiliations
Case Reports

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

Blanca Bravo-Queipo-de-Llano et al. Pediatr Pulmonol. 2023 Feb.

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.

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References

REFERENCES

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