A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis

Copyright © 2017 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 183(2017) vom: 15. Okt., Seite 198-200
1. Verfasser: Qamar, Farah (VerfasserIn)
Weitere Verfasser: Junejo, Samina, Qureshi, Sonia, Seleman, Michael, Bainter, Wayne, Massaad, Michel, Chou, Janet, Geha, Raif S
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2017
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't JAK3 Severe combined immunodeficiency JAK3 protein, human EC 2.7.10.2 Janus Kinase 3
Beschreibung
Zusammenfassung:Copyright © 2017 Elsevier Inc. All rights reserved.
JAK3 is a tyrosine kinase essential for signaling downstream of the common gamma chain subunit shared by multiple cytokine receptors. JAK3 deficiency results in T-B+NK- severe combined immune deficiency (SCID). We report a patient with SCID due to a novel mutation in the JAK3 JH4 domain. The function of the JH4 domain remains unknown. This is the first report of a missense mutation in the JAK3 JH4 domain, thereby demonstrating the importance of the JH4 domain of JAK3 in host immunity
Beschreibung:Date Completed 13.12.2017
Date Revised 06.02.2018
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2017.09.007