Germline Mosaicism in <i>STAT3</i>: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome-Reference-Cited by-同舟云学术

Germline Mosaicism in STAT3: A Pitfall for Genetic Diagnosis, Counseling, and Therapy of Hyper-IgE Syndrome

Published:2023-12-01 Issue:6 Volume:34 Page:561-563
ISSN:1710-3568
Container-title:Dermatitis®
language:en
Short-container-title:Dermatitis®

Author:

Sabbagh Quentin¹^ORCID,Cohen Jean-David²,Mortreux Jérémie³,Raymond Laure³,Geromel Vanna³,Boursier Guilaine⁴,Jeziorski Eric⁵,Le Moing Vincent⁶,Bessis Didier⁷,Geneviève David^ORCID

Affiliation:

1. Service de Génétique Clinique, INSERM U1183, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

2. Département de Rhumatologie, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

3. Laboratoire Eurofins Biomnis, Lyon, France

4. Rare and Autoinflammatory Diseases Unit, Department of Molecular Genetics and Cytogenomics, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

5. Département de Pédiatrie Générale, Infectiologie et Immunologie Clinique, Montpellier University, Centre de Référence des Maladies Auto-Inflammatoires Rares et des Amyloses, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

6. Département de Maladies Infectieuses et Tropicales, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

7. Département de Dermatologie, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France

Publisher

Mary Ann Liebert Inc

Subject

Dermatology,Immunology and Allergy

Link

https://www.liebertpub.com/doi/pdf/10.1089/derm.2022.0057

Reference5 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

2. Essential Role of STAT3 Signaling in Hair Follicle Homeostasis

3. Mechanisms of Dupilumab

4. Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome

5. STAT3-confusion-of-function: Beyond the loss and gain dualism