1. Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype.
- Author
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Stepensky P, Keller B, Shamriz O, NaserEddin A, Rumman N, Weintraub M, Warnatz K, Elpeleg O, and Barak Y
- Subjects
- Consanguinity, Female, Humans, Infant, Janus Kinase 3 immunology, Male, Mutation, Phenotype, Severe Combined Immunodeficiency immunology, B-Lymphocytes immunology, Introns genetics, Janus Kinase 3 genetics, Killer Cells, Natural immunology, RNA Splicing genetics, Severe Combined Immunodeficiency genetics, T-Lymphocytes immunology
- Abstract
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., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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