JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene.

ABSTRACT:

Background

Mutations in the Janus Kinase 3 (JAK3) gene cause an autosomal recessive form of severe combined immunodeficiency (SCID) usually characterized by the absence of both T and NK cells, but preserved numbers of B lymphocytes (T-B+NK-SCID). The detection of larger (>100 bp) genomic duplications or deletions can be more difficult to be detected by PCR-based methods or standard NGS protocols, and a broad range of mutation detection techniques are necessary.

Methods

We report four unrelated Italian patients (two females and two males) with SCID phenotype. Protein expression, functional studies, molecular analysis by standard methods and NGS, and transcripts studies were performed to obtain a definitive diagnosis.

Results

Here, we describe four JAK3-deficient patien

SUBMITTER: Di Matteo G 

PROVIDER: S-EPMC6160700 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature