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

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Polina StepenskyYaacov Barak

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.

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Citations

Jun 27, 2018·Scandinavian Journal of Immunology·Maryam NourizadehZahra Pourpak
Jul 23, 2018·Molecular Genetics & Genomic Medicine·Gigliola Di MatteoCaterina Cancrini
Apr 1, 2020·F1000Research·Giorgia Bucciol, Isabelle Meyts
Jun 12, 2021·American Journal of Perinatology·Aykut PoyrazTurkan Patiroglu

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