Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype-Reference-Cited by-同舟云学术

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Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype

Published:2021-08 Issue:4 Volume:44 Page:412-421
ISSN:2319-4170
Container-title:Biomedical Journal
language:en
Short-container-title:Biomedical Journal

Author:

Faletti Laura^ORCID,Ehl Stephan,Heeg Maximilian^ORCID

Publisher

Elsevier BV

Subject

General Medicine

Reference96 articles.

1. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome;Fisher;Cell,1995

2. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease;Flanagan;Nat Genet,2014

3. Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3;Haapaniemi;Blood,2015

4. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations;Milner;Blood,2015

5. The molecular details of cytokine signaling via the JAK/STAT pathway;Morris;Protein Sci,2018

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2. Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus;Journal of Experimental Medicine;2024-07-19

3. Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies;Clinical Immunology;2024-03

4. Activation of gp130 signaling in T cells drives T _H 17-mediated multi-organ autoimmunity;Science Signaling;2024-02-20

5. Unraveling the immunogenetics of STAT proteins: Clinical perspectives on gain-of-function and loss-of-function variants;Asian Pacific Journal of Allergy and Immunology;2024

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