IL2RG Gene

2020 ◽  
Author(s):  
Keyword(s):  
Il2rg Gene

A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency

2019 ◽  
Vol 109 (5) ◽  
pp. 603-611 ◽  
Author(s):  
Motoi Yamashita ◽  
Ryosuke Wakatsuki ◽  
Tamaki Kato ◽  
Tsubasa Okano ◽  
Shingo Yamanishi ◽  
...  
Keyword(s):  
Splice Site ◽  
Late Onset ◽  
Splice Site Mutation ◽  
Combined Immunodeficiency ◽  
Site Mutation ◽  
Il2rg Gene

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

1995 ◽  
Vol 4 (9) ◽  
pp. 1693-1695 ◽  
Author(s):  
Carla Tassara ◽  
Amy E. Pepper ◽  
Jennifer M. Puck
Keyword(s):  
Point Mutation ◽  
Severe Combined Immunodeficiency ◽  
Combined Immunodeficiency ◽  
Il2rg Gene

scholarly journals Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

Blood ◽  
2007 ◽  
Vol 110 (1) ◽  
pp. 67-73 ◽  
Author(s):  
Javier Chinen ◽  
Joie Davis ◽  
Suk See De Ravin ◽  
Beverly N. Hay ◽  
Amy P. Hsu ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Cell Function ◽  
Severe Combined Immunodeficiency ◽  
Marrow Transplant ◽  
Salvage Treatment ◽  
Combined Immunodeficiency ◽  
Gamma Chain ◽  
Gene Encoding ◽  
Il2rg Gene ◽  
The Common

Retroviral gene therapy can restore immunity to infants with X-linked severe combined immunodeficiency (XSCID) caused by mutations in the IL2RG gene encoding the common gamma chain (γc) of receptors for interleukins 2 (IL-2), −4, −7, −9, −15, and −21. We investigated the safety and efficacy of gene therapy as salvage treatment for older XSCID children with inadequate immune reconstitution despite prior bone marrow transplant from a parent. Subjects received retrovirus-transduced autologous peripherally mobilized CD34+ hematopoietic cells. T-cell function significantly improved in the youngest subject (age 10 years), and multilineage retroviral marking occurred in all 3 children.

scholarly journals Computational Analysis Revealed Five Novel Mutations in Human IL2RG gene Related to X-SCID

2019 ◽  
Author(s):  
Tamadur Babiker Abbas Mohammed ◽  
Asma Ali Hassan Ali ◽  
Areeg ElsirAbdelgadir Elemam ◽  
Wala Omer Mohammed Altayb ◽  
Tebyan Ameer Abdelhameed Abbas ◽  
...  
Keyword(s):  
Binding Sites ◽  
Computational Analysis ◽  
Severe Combined Immunodeficiency ◽  
Gene Interaction ◽  
Sequence Structure ◽  
Gamma Chain ◽  
Project Hope ◽  
Life Threatening ◽  
Il2rg Gene ◽  
And Function

ABSTRACTBackgroundX linked severe combined immunodeficiency (X-SCID) is a life-threatening disorder. It is due to mutation of the interleukin two receptor gamma-chain (IL2RG) gene. Nonsynonymous SNPs (nsSNPs) are the most common polymorphism, known to be deleterious or disease-causing variations because they alter protein sequence, structure, and function. Objective: is to reveal the effect of harmful SNPs in the function and structure of IL2RG protein.MethodData on IL2RG was investigated from dbSNP/NCBI database. Prediction of damaging effect was done using sift, polyphen, provean and SNAP2.more software were used for more analysis: phd-snp, and and go, Pmut, Imutant.modeling was done using chimera and project hope. Gene interaction was done by gene mania.3UTR prediction was done using polymiRTS software.ResultThe in-silico prediction identified 1479 SNPs within IL2RG gene out of which 253 were coding SNPs, 50 took place in the miRNA 3 UTR, 21 occurred in 5 UTR region and 921 occurred in intronic regions. a total of 12 missense nsSNPs were found to be damaging by both a sequence homology-based tool (SIFT) and a structural homology-based method (PolyPhen), Five of them were novel; rs1322436793(G305R), rs1064794027(C182Y), rs111033620(G114D), rs193922347 (Y105C) and rs1293196743(Y91C), Two SNPs(Rs144075871 and rs191726889) out of 50 in the 3UTR region were predicted to disrupt miRNAs binding sites and affect the gene expression.ConclusionsComputational analysis of SNPs has become a very valuable tool in order to discriminate neutral SNPs from damaging SNPs. This study revealed 5 novel nsSNPs in the IL2RG gene by using different software and 21 SNPs in 3UTR. These SNPs could be considered as important candidates in causing diseases related to IL2RG mutation and could be used as diagnostic markers.

scholarly journals Silent IL2RG Gene Editing in Human Pluripotent Stem Cells

2016 ◽  
Vol 24 (3) ◽  
pp. 582-591 ◽  
Author(s):  
Li B Li ◽  
Chao Ma ◽  
Geneve Awong ◽  
Marion Kennedy ◽  
German Gornalusse ◽  
...  
Keyword(s):  
Stem Cells ◽  
Pluripotent Stem Cells ◽  
Gene Editing ◽  
Human Pluripotent Stem Cells ◽  
Il2rg Gene

Generation of Immunodeficient Rats With Rag1 and Il2rg Gene Deletions and Human Tissue Grafting Models

2018 ◽  
Vol 102 (8) ◽  
pp. 1271-1278 ◽  
Author(s):  
Séverine Ménoret ◽  
Laure-Hélène Ouisse ◽  
Laurent Tesson ◽  
Frédéric Delbos ◽  
Delphine Garnier ◽  
...  
Keyword(s):  
Human Tissue ◽  
Gene Deletions ◽  
Il2rg Gene

scholarly journals Correction of Murine SCID-X1 by Lentiviral Gene Therapy Using a Codon-optimized IL2RG Gene and Minimal Pretransplant Conditioning

2011 ◽  
Vol 19 (10) ◽  
pp. 1867-1877 ◽  
Author(s):  
Marshall W Huston ◽  
Niek P van Til ◽  
Trudi P Visser ◽  
Shazia Arshad ◽  
Martijn H Brugman ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Il2rg Gene ◽  
Lentiviral Gene Therapy
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