Case Report: Dual molecular diagnosis of gain-of-function STAT1 mutation and regulatory STAT3 variant in a patient with a hyper-IgE-like phenotype

BackgroundThe transcription factors signal transducer and activator of transcription 1 and 3 (STAT1 and STAT3) play essential roles in immune and non-immune cell function. The clinical characterization of patients carrying germline gain or loss-of-function (GOF or LOF) mutations in these genes has s...

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Principais autores:	Roukaya Yaakoubi, Najla Mekki, Amel Ben Chehida, Ansem Benhammadi, Koon-Wing Chan, Daniel Leung, Charfeddine Gharsallah, Fatma Zahra Guerfali, Mohamed-Ridha Barbouche, Yu Lung Lau, Meriem Ben-Ali, Imen Ben-Mustapha
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2025-10-01
Serija:	Frontiers in Immunology
Teme:	STA3-GOF STAT1-GOF dual molecular diagnosis hyper IgE syndrome CMC
Online dostop:	https://www.frontiersin.org/articles/10.3389/fimmu.2025.1646761/full
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