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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2016

01-01-2016 | Letter to Editor

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

Authors: Alison Joanne Lee, Marcela Moncada-Vélez, Capucine Picard, Genevieve Llanora, Chiung-Hui Huang, Laurent Abel, Si Min Chan, Bee-Wah Lee, Jean-Laurent Casanova, Jacinta Bustamante, Lynette Pei-Chi Shek, Stéphanie Boisson-Dupuis

Published in: Journal of Clinical Immunology | Issue 1/2016

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Excerpt

To the Editor, …
Appendix
Available only for authorised users
Literature
1.
Boisson-Dupuis S et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103–20.CrossRefPubMed
2.
Yoshioka T et al. Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. J Clin Immunol. 2013;33(7):1165–74.CrossRefPubMed
3.
Boisson B, Quartier P, Casanova JL. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol. 2015;32:90–105.CrossRefPubMed
4.
Janssen R et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med. 2004;200(5):559–68.PubMedCentralCrossRefPubMed
5.
Picard C, Casanova JL, Puel A. Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IkappaBalpha deficiency. Clin Microbiol Rev. 2011;24(3):490–7.PubMedCentralCrossRefPubMed
Metadata
Title
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA
Authors
Alison Joanne Lee
Marcela Moncada-Vélez
Capucine Picard
Genevieve Llanora
Chiung-Hui Huang
Laurent Abel
Si Min Chan
Bee-Wah Lee
Jean-Laurent Casanova
Jacinta Bustamante
Lynette Pei-Chi Shek
Stéphanie Boisson-Dupuis
Publication date
01-01-2016
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0223-8

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