Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 163(2016) vom: 01. Feb., Seite 91-5
1. Verfasser:	Stepensky, Polina (VerfasserIn)
Weitere Verfasser:	Keller, Baerbel, Shamriz, Oded, NaserEddin, Adeeb, Rumman, Nisreen, Weintraub, Michael, Warnatz, Klaus, Elpeleg, Orly, Barak, Yaacov
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2016
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Journal Article Research Support, Non-U.S. Gov't JAK3 Mis-splicing mutations SCID JAK3 protein, human EC 2.7.10.2 Janus Kinase 3

Beschreibung
Zusammenfassung:	Copyright © 2016 Elsevier Inc. All rights reserved. Severe combined immune deficiency (SCID) is a group of genetically heterogeneous diseases caused by an early block in T cell differentiation and present with life threatening infections, often within the first year of life. Janus kinase (JAK)3 gene mutations have been found to cause autosomal recessive T-B+ SCID phenotype. In this study we describe three patients with a novel deep intronic mis-splicing mutation in JAK3 as a cause of T-B+NK- SCID highlighting the need for careful evaluation of intronic regulatory elements of known genes associated with clearly defined clinical phenotypes. We present the cases and discuss the current literature
Beschreibung:	Date Completed 28.06.2016 Date Revised 10.03.2022 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2016.01.001