PMID: 8462096Apr 9, 1993Paper

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

Cell
M NoguchiW J Leonard

Abstract

The interleukin-2 (IL-2) receptor gamma chain (IL-2R gamma) is a component of high and intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and internalization. We have localized the IL-2R gamma gene to human chromosome Xq13. Genetic linkage analysis indicates that the IL-2R gamma gene and the locus for X-linked severe combined immunodeficiency (XSCID) appear to be at the same position. Moreover, we demonstrate that each of three unrelated patients with XSCID has a different mutation in his IL-2R gamma gene resulting in a different premature stop codon and predicted C-terminal truncation. These data establish that XSCID is associated with mutations of the IL-2R gamma gene product. Since XSCID is characterized by absent or markedly reduced numbers of T cells, our findings imply that IL-2R gamma plays a vital role in thymic maturation of T cells. These results also have important implications for prenatal and postnatal diagnosis, carrier female detection, and gene therapy for XSCID.

Citations

Jul 5, 2001·The Journal of Gene Medicine·M Cavazzana-CalvoA Fischer
Sep 18, 2010·Inflammatory Bowel Diseases·Daniel J B MarksStuart L Bloom
Nov 1, 1995·Mammalian Genome : Official Journal of the International Mammalian Genome Society·C A Kozak, W J Leonard
Jun 10, 1998·Springer Seminars in Immunopathology·F CandottiA Villa
Jun 10, 1998·Springer Seminars in Immunopathology·F FacchettiW Vermi
Jun 10, 1998·Springer Seminars in Immunopathology·F Candotti, R M Blaese
Jan 1, 1996·Journal of Clinical Immunology·B ZhengS Han
Mar 1, 1994·Journal of Clinical Immunology·J M Puck
Sep 1, 1995·Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.]·J H HankeP S Changelian
Jan 1, 1994·Biotherapy·B A Kruskal, A B Ezekowitz
May 10, 2001·International Journal of Hematology·W J Leonard
Nov 30, 2007·Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·C BaumA Thrasher
Sep 16, 2004·Springer Seminars in Immunopathology·Wilhelm Friedrich, Susanna M Müller
Sep 25, 2012·Journal of Clinical Immunology·Rebecca H BuckleyMarcella Sarzotti-Kelsoe
Dec 8, 2006·Journal of Biomedical Science·Hong-Wen HuangJeffrey Jong-Young Yen
Mar 15, 2002·Current Allergy and Asthma Reports·K I WeinbergR Parkman
Aug 9, 2003·Current Allergy and Asthma Reports·John Kelly, Warren J Leonard
Jul 31, 2004·Current Allergy and Asthma Reports·Hans D Ochs, Luigi D Notarangelo
Oct 6, 2007·Immunologic Research·Frederick W Quelle
Nov 1, 1995·Journal of the Neurological Sciences·I SteinbergerH Lorberboum-Galski
Nov 1, 1995·Brain Research. Brain Research Reviews·U K Hanisch, R Quirion
Sep 1, 1993·Immunology Today·D B PalmerM J Owen
Sep 1, 1993·Immunology Today·M A Ritter, R L Boyd
Nov 1, 1993·Parasitology Today·S L Stanley, H W Virgin
Mar 1, 1995·Research in Immunology·V A BoussiotisL M Nadler
Aug 1, 1993·Current Opinion in Immunology·A Fischer
Aug 1, 1993·Current Opinion in Immunology·R S YeungT W Mak
Oct 1, 1994·Current Opinion in Immunology·P NickersonT B Strom
Oct 1, 1994·Current Opinion in Immunology·V A BoussiotisL M Nadler
Apr 1, 1994·Current Opinion in Immunology·H Spits
Apr 1, 1995·Current Opinion in Immunology·A Zlotnik, T A Moore
Jun 1, 1995·Critical Reviews in Oncology/hematology·A Arnaiz-VillenaJ R Regueiro
Dec 6, 2003·The Journal of Allergy and Clinical Immunology·Tania HabibKenneth Kaushansky
Dec 14, 2012·Advances in Biological Regulation·Daniel RibeiroJoão T Barata

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell eTOC

Cell is a scientific journal publishing research across a broad range of disciplines within the life sciences field. Discover the latest research from Cell here.