Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

Diagnostic challenge in a series of eleven patients with hyper IgE syndromes

Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transc...

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Bibliographic Details
Main Authors: Roukaya Yaakoubi, Najla Mekki, Imen Ben-Mustapha, Leila Ben-Khemis, Asma Bouaziz, Ilhem Ben Fraj, Jamel Ammar, Agnès Hamzaoui, Hamida Turki, Lobna Boussofara, Mohamed Denguezli, Samir Haddad, Monia Ouederni, Mohamed Bejaoui, Koon Wing Chan, Yu Lung Lau, Fethi Mellouli, Mohamed-Ridha Barbouche, Meriem Ben-Ali
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Immunology
Subjects:
STAT3 deficiency
DOCK8 deficiency
differential diagnosis
candidate gene strategy
WES
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.1057679/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2022.1057679/full

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