Pediatric Hematology/Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Center for Chronic Immunodeficiency, University Medical Center and University of Freiburg, Freiburg, Germany.
Clin Immunol. 2016 Feb;163:91-5. doi: 10.1016/j.clim.2016.01.001. Epub 2016 Jan 6.
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.
严重联合免疫缺陷 (SCID) 是一组由 T 细胞分化早期阻断引起的遗传异质性疾病，表现为危及生命的感染，通常在生命的第一年。已发现 Janus 激酶 (JAK)3 基因突变会导致常染色体隐性 T-B+SCID 表型。在这项研究中，我们描述了三名患者存在 JAK3 中的新型深内含子错剪接突变，这是 T-B+NK-SCID 的病因，强调需要仔细评估与明确临床表型相关的已知基因的内含子调节元件。我们介绍了这些病例并讨论了当前的文献。
