A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia-Reference-Cited by-同舟云学术

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A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia

Published:2020-01 Issue: Volume:210 Page:108269
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Sogkas Georgios,Adriawan Ignatius R.,Ringshausen Felix C.,Baumann Ulrich,Schröder Claudia,Klemann Christian,von Hardenberg Sandra,Schmidt Gunnar,Bernd Auber,Jablonka Alexandra,Ernst Diana,Schmidt Reinhold E.,Atschekzei Faranaz

Funder

Young Academy Clinician/Scientist program

German Academic Exchange Service

Hannover Biomedical Research School

German Center for Infection Research

cluster of excellence RESIST

Rosemarie-Germscheid foundation

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference24 articles.

1. Regulation and function of NF-kappaB transcription factors in the immune system;Vallabhapurapu;Annu. Rev. Immunol.,2009

2. Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling;Paciolla;Genes Immun.,2015

3. Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency;Fliegauf;Am. J. Hum. Genet.,2015

4. Acquired and innate immunity impairment and severe disseminated Mycobacterium genavense infection in a patient with a NF-κB1 deficiency;Gonzalez-Granado;Front. Immunol.,2019

5. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency;Chen;Am. J. Hum. Genet.,2013

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