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Article

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

Pediatric pulmonology - 1 Feb 2023

Bravo-Queipo-de-Llano Blanca, Bonet Daniel, Del Rosal Teresa, Cámara Carmen, Ruiz de Valbuena Marta, Pérez Ana, Grasa Carlos D, Méndez-Echevarría Ana

Abstract excerpt

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...

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PMID: 36267002
DOI: 10.1002/ppul.26212

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