Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

@article{Ishii1994ImpairmentOL,  title={Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.},  author={Naoto Ishii and Hironobu Asao and Yutaka Kimura and Toshikazu Takeshita and Minoru Nakamura and Shigeru Tsuchiya and Tasuke Konno and Michiyuki Maeda and Takashi Uchiyama and Kazuo Sugamura},  journal={Journal of immunology},  year={1994},  volume={153 3},  pages={          1310-7        },  url={https://api.semanticscholar.org/CorpusID:24092176}}
Findings indicate that the gamma-chain gene mutations that accompany XSCID induce loss of the Gamma-chain function, possibly resulting in stagnation of the differentiation and development of T cells.

78 Citations

Interleukin-2 receptor γ-chain mutations in severe combined immunodeficiency with B-lymphocytes

The results emphasize the broad molecular heterogeneity of X-linked SCID and suggest the presence of mutational “hot spots” within the IL-2R γ-chain gene.

The molecular basis of X-linked severe combined immunodeficiency: defective cytokine receptor signaling.

The fact that the phenotype and clinical manifestations in XSCID are more severe than the abnormalities found in humans or mice deficient inIL-2 led to the speculation and subsequent confirmation that the IL-2 receptor is not the only receptor to contain the gamma chain, gamma c, and the role of gamma c in signaling and lymphoid development and the implications of a shared receptor component are discussed.

Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2Rγ chain gene by single-strand conformation polymorphism analysis

Mutations in the common gamma chain of the interleukin-2, −4, −7, −9 and −15 receptors have been found to cause X-linked severe combined immunodeficiency (SCIDX1), and seven of the mutations identified have occurred twice in unrelated families, indicating two possible mutational hotspots.

Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency.

X-linked severe combined immunodeficiency (X-SCID) is characterized by an absent or diminished number of T cells and natural-killer (NK) cells with a normal or elevated number of B cells, and results…

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.

37 newly identified mutations of IL2RG are reported, including 23 point mutations, 10 small deletions, 3 instances of the same single nucleotide insertion, 1 large deletion, and 2 complex mutations found in 78 previously unpublished unrelated cases of XSCID.

A membrane-proximal region of the interleukin-2 receptor gamma c chain sufficient for Jak kinase activation and induction of proliferation in T cells

It appears in T cells that Jak3 is a critical mediator of mitogenic signaling by the gamma c chain, which requires both membrane-proximal and C-terminal subdomains for mitogenic signalling.

Functional epitope of common γ chain for interleukin-4 binding

The alanine-scanning mutational analysis results provide a basis for elucidating the molecular recognition mechanism in the IL-4 receptor system and a paradigm for other γc-dependent cytokine receptor systems.

Correction of interleukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the gamma-c gene.

X-SCID, the most common form of human SCID, is due to mutations in the common gamma chain gene (gamma-c) that encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4,…

Molecular Basis for Binding Multiple Cytokines by γc

Molecular modeling in conjunction with site-directed mutagenesis of γc indicates that a common mechanism is responsible for the ability ofγc to bind multiple cytokines, and this notion is related to instances in which mutations in the extracytoplasmic region of τc resulted in X-SCID.
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