Article
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.
Clinical immunology (Orlando, Fla.) - 1 Feb 2016
Stepensky Polina, Keller Baerbel, Shamriz Oded, NaserEddin Adeeb, Rumman Nisreen, Weintraub Michael, Warnatz Klaus, Elpeleg Orly, Barak Yaacov
Abstract excerpt
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...
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