Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency

被引：2
|
作者：
Liongue, Clifford [1 ,2 ]
Ratnayake, Tarindhi [1 ]
Basheer, Faiza [1 ,2 ]
Ward, Alister C. [1 ,2 ]
机构：
[1] Deakin Univ, Sch Med, Geelong, Vic 3216, Australia
[2] Deakin Univ, Inst Mental & Phys Hlth & Clin Translat IMPACT, Geelong, Vic 3216, Australia
来源：
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2024年 / 25卷 / 05期
关键词：
cytokine; cytokine receptor; immunity; immunodeficiency; JAK3; leukemia; ACUTE MEGAKARYOBLASTIC LEUKEMIA; ACUTE LYMPHOBLASTIC-LEUKEMIA; STAT PATHWAY; STEM-CELL; ACTIVATING MUTATIONS; DEFICIENCY; RECEPTOR; CYTOKINE; INTERLEUKIN-2; FAMILY;
D O I：
10.3390/ijms25052977
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The Janus kinase (JAK) family is a small group of protein tyrosine kinases that represent a central component of intracellular signaling downstream from a myriad of cytokine receptors. The JAK3 family member performs a particularly important role in facilitating signal transduction for a key set of cytokine receptors that are essential for immune cell development and function. Mutations that impact JAK3 activity have been identified in a number of human diseases, including somatic gain-of-function (GOF) mutations associated with immune cell malignancies and germline loss-of-function (LOF) mutations associated with immunodeficiency. The structure, function and impacts of both GOF and LOF mutations of JAK3 are highly conserved, making animal models highly informative. This review details the biology of JAK3 and the impact of its perturbation in immune cell-related diseases, including relevant animal studies.
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页数：13
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