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

1996 ◽  
Vol 155 (12) ◽  
pp. 1018-1024 ◽  
Author(s):  
I. Tsuge ◽  
H. Matsuoka ◽  
T. Abe ◽  
Y. Kamachi ◽  
S. Torii
Keyword(s):  
B Lymphocytes ◽  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Interleukin 2 Receptor

INTERLEUKIN-2 RECEPTOR γ CHAIN MUTATION RESULTS IN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY IN HUMANS

PEDIATRICS ◽  
1994 ◽  
Vol 94 (2) ◽  
pp. 279-280
Author(s):  
John D. Jeppson ◽  
Andrew Liu
Keyword(s):  
Critical Role ◽  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Point Mutations ◽  
Cell Immune Response ◽  
Combined Immunodeficiency ◽  
Interleukin 2 Receptor ◽  
Carrier Identification ◽  
Cell Signal Transduction ◽  
Immunodeficiency Syndromes

Purpose of the Study. Interleukin-2 (IL-2) and IL-2 receptors play a critical role in the regulation of the T cell immune response. IL-2 receptors are made of combinations of three different chains a, β, and γ. Different combinations of these chains result in the formation of three different classes of IL-2 receptors. The authors of this paper were interested in the interleukin-2 receptor γ chain (IL-2Rγ) gene and its relationship to X-linked severe combined immunodeficiency (XSCID). Findings. The IL-2Rγ gene was localized to the X chromosome in the same region as the XSCID locus. The IL-2Rγ gene from three patients with XSCID were found to have point mutations leading to premature stop codons and truncated IL-2Rγ chains. These shortened IL-2Rγ chains lack the cytoplasmic domain required for cell signal transduction. Reviewers' Comments. This is the first article showing the XSCID is associated with mutations in the IL-2Rγ gene. This suggests that IL-2Rγ plays a critical role in the early development of T-cells and their function in the immune system. These results also suggest that other genetic defects in components of the IL-2/IL-2R system could be responsible for other forms of SCID or other immunodeficiency syndromes. The fact that all three patients had different mutations suggests that there is no single dominant mutation. These findings have important implications for prenatal and postnatal diagnosis, carrier identification, and possibly gene therapy for XSCID.

Radioimmunodetection of human leukemia with anti-interleukin-2 receptor antibody in severe combined immunodeficiency mice

1995 ◽  
Vol 22 (7) ◽  
pp. 869-874 ◽  
Author(s):  
Makoto Hosono ◽  
Akifumi Takaori-Kondo ◽  
Zheng-Sheng Yao ◽  
Hisataka Kobayashi ◽  
Masako N. Hosono ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Human Leukemia ◽  
Combined Immunodeficiency ◽  
Receptor Antibody ◽  
Interleukin 2 Receptor

Three novel mutations in the interleukin-2 receptor ? chain gene in four Japanese patients with X-linked severe combined immunodeficiency

1995 ◽  
Vol 96 (6) ◽  
pp. 681-683 ◽  
Author(s):  
Yoshiyuki Minegishi ◽  
Naoto Ishii ◽  
Hirotoshi Maeda ◽  
Shuji Takagi ◽  
Masahiro Tsuchida ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Japanese Patients ◽  
Chain Gene ◽  
Combined Immunodeficiency ◽  
Novel Mutations ◽  
Interleukin 2 Receptor ◽  
Receptor Chain

Interleukin-2 receptor common gamma chain (IL2RG) defects present a diagnostic challenge

2018 ◽  
Vol 5 (4) ◽  
pp. 130-134
Author(s):  
Caroline Weisser ◽  
Dennis E. Bulman ◽  
Kayla Flamenbaum ◽  
Maian Roifman
Keyword(s):  
Genetic Analysis ◽  
Severe Combined Immunodeficiency ◽  
Genetic Defect ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Gamma Chain ◽  
Gene Encoding ◽  
Common Gamma Chain ◽  
Interleukin 2 Receptor ◽  
The Common

Background: The protein encoded by interleukin-2 receptor common gamma chain (IL2RG) is an important signaling component of many interleukin receptors, including those of interleukin-2, -4, -7, and -21, known as the common gamma chain. Mutations in the gene encoding the common gamma chain of the interleukin-2 receptor cause X-linked severe combined immunodeficiency (SCID). In this report, we present an unknown genetic defect of a patient diagnosed with SCID whose genetic analysis was performed 2 decades later. Methods: Whole genome sequencing and Sanger confirmation were used to identify a novel frameshift mutation in IL2RG. Massively parallel sequencing of genes associated with SCID were performed on the patient’s mother and sister. Results: Next generation sequencing techniques identified a heterozygous frame-shift deletion in the gene encoding the common gamma chain of IL2RG in our patient. The patient’s mother had a low level mosaicism for the same deletion. The sister had no detectable deletion. Conclusion: We have identified a novel mutation in IL2RG resulting in an X-linked SCID phenotype. The genetic analysis of the patient’s mother revealed a mosaicism which was not passed on to his sister. The importance of genetic analysis in family members and SCID patients with an unknown genetic defect should be emphasized for family planning and subsequent genetic counseling. Statement of novelty: Genetic testing is an extremely important component in evaluating severe combined immunodeficiency as it impacts treatment course and prognosis, and allows for genetic analysis and counselling of family members.

The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1

1993 ◽  
Vol 2 (8) ◽  
pp. 1099-1104 ◽  
Author(s):  
Jennifer M. Puck ◽  
Suzanne M. Deschenes ◽  
Joanne C. Porter ◽  
Amalla S. Dutra ◽  
Carolyn J. Brown ◽  
...  
Keyword(s):  
Severe Combined Immunodeficiency ◽  
Interleukin 2 ◽  
Combined Immunodeficiency ◽  
Interleukin 2 Receptor ◽  
Chain Maps
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