Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE While the inactivation mutations that eliminate JAK3 function lead to the immunological disorders such as severe combined immunodeficiency, activation mutations, causing constitutive JAK3 signaling, are known to trigger various types of cancer or are responsible for autoimmune diseases, such as rheumatoid arthritis, psoriasis, or inflammatory bowel diseases. 30929155 2019
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Loss-of-function mutations in the tyrosine kinase JAK3 cause autosomal recessive severe combined immunodeficiency (SCID). 28513593 2018
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Janus kinase 3 (JAK3) tyrosine kinase has a central role in the control of lymphopoiesis, and mutations in JAK3 can lead to either severe combined immunodeficiency or leukemia and lymphomas. 30560087 2018
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene. 30032486 2018
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. 28209722 2017
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE We report a patient with SCID due to a novel mutation in the JAK3 JH4 domain. 28917720 2017
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. 28552805 2017
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE 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. 26769277 2016
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE Using SCID patient-specific induced pluripotent stem cells (iPSCs) and a T cell in vitro differentiation system, we demonstrate a complete block in early T cell development of JAK3-deficient cells. 26321643 2015
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE In both IL-2RG- and JAK3-SCID patients, the early stages of lymphoid commitment from hematopoietic stem cells were present with development of lymphoid-primed multipotent progenitors, common lymphoid progenitors and B cell progenitors, normal expression patterns of IL-7RA and TLSPR, and the DNA recombination genes DNTT and RAG1. 24771849 2014
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Mutations in Janus kinase 3 (JAK3) are a cause of severe combined immunodeficiency, but hypomorphic JAK3 defects can result in a milder clinical phenotype, with residual development and function of autologous T cells. 23384681 2013
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE This is manifested in the hyper-IgE syndrome, X-linked and JAK3-related severe combined immunodeficiency (SCID) and loss-of-function mutations in the IL-21R gene. 24126614 2013
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Disseminated cryptococcal infection in patient with novel JAK3 mutation severe combined immunodeficiency, with resolution after stem cell transplantation. 22138680 2012
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE JAK3 inactivating mutations result in immunodeficiency syndromes (SCID) in both humans and mice. 19747563 2009
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE A striking phenotype associated with inactivating Jak3 mutations is severe combined immunodeficiency syndrome, whereas mutation of Tyk2 results in another primary immunodeficiency termed autosomal recessive hyperimmunoglobulin E syndrome. 19290934 2009
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease CLINVAR Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. 18559588 2008
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE Patient 1 was a 5-month-old girl with Janus kinase 3-deficient SCID who had 4% circulating CD3(+) T cells but no lymphocyte proliferative response to mitogens. 17481714 2007
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE Both patients had the same JAK3 gene mutation, suggesting that maternal engraftment may result in immune competence leading to long-term survival in patients with severe combined immune deficiency. 15644840 2005
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE In this review, we summarize the discoveries that led to the understanding of the role of cytokine receptors and a specific tyrosine kinase, Janus kinase 3 (Jak3), in the pathogenesis of SCID. 15661026 2005
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease CTD_human We discuss how the identification of mutations of Jak3 in autosomal recessive SCID has facilitated the diagnosis of these disorders, offered new insights into the biology of this kinase, permitted new avenues for therapy, and provided the rationale for a generation of a new class of immunosuppressants. 15661026 2005
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease CTD_human Herein, we discuss the normal actions of the gammac cytokines, the pathogenesis and treatment protocols for SCID, and finally, the production of a new, selective Jak3 inhibitor capable of preventing transplant rejection in two animal models. 15220007 2004
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE The current therapy for patients suffering from Jak3 SCID is hematopoetic stem cell transplantation, although gene therapy trials have also been performed. 15220007 2004
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 Biomarker disease BEFREE The nine patients with HPV disease had severe combined immune deficiency associated with either common gammac receptor cytokine subunit or Janus kinase-3 (JAK-3) deficiency. 15207958 2004
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease BEFREE We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase 3 (JAK3) mutations. 14615376 2004
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.700 GeneticVariation disease LHGDN Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. 11668610 2001