Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency. 2015

Y Hara, and N Kobayashi, and Y Maruyama, and M Motobayashi, and T Shigemura, and O Ohara, and K Agematsu, and K Koike

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D053631 Interleukin Receptor Common gamma Subunit An interleukin receptor subunit that was originally discovered as a component of the INTERLEUKIN 2 RECEPTOR. It was subsequently found to be a component of several other receptors including the INTERLEUKIN 4 RECEPTOR, the INTERLEUKIN 7 RECEPTOR, the INTERLEUKIN-9 RECEPTOR, the INTERLEUKIN-15 RECEPTOR, and the INTERLEUKIN-21 RECEPTOR. Mutations in the gene for the interleukin receptor common gamma chain have been associated with X-LINKED COMBINED IMMUNODEFICIENCY DISEASES. Antigens, CD132,CD132 Antigens,Interleukin-15 Receptor gamma Subunit,Interleukin-2 Receptor gamma Subunit,Interleukin-21 Receptor gamma Subunit,Interleukin-4 Receptor gamma Subunit,Interleukin-7 Receptor gamma Subunit,Receptors, Interleukin Common gamma Chain,CD132 Antigen,Common Cytokine Receptor gamma Subunit,Common gamma-Chain Protein,Cytokine Receptor Common gamma Chain,Interleukin Receptor Common gamma-Chain,Interleukin-15 Receptor gamma Chain,Interleukin-2 Receptor gamma Chain,Interleukin-21 Receptor gamma Chain,Interleukin-4 Receptor gamma Chain,Interleukin-7 Receptor gamma Chain,Antigen, CD132,Common gamma Chain Protein,Interleukin 15 Receptor gamma Chain,Interleukin 15 Receptor gamma Subunit,Interleukin 2 Receptor gamma Chain,Interleukin 2 Receptor gamma Subunit,Interleukin 21 Receptor gamma Chain,Interleukin 21 Receptor gamma Subunit,Interleukin 4 Receptor gamma Chain,Interleukin 4 Receptor gamma Subunit,Interleukin 7 Receptor gamma Chain,Interleukin 7 Receptor gamma Subunit,Interleukin Receptor Common gamma Chain,gamma-Chain Protein, Common
D053632 X-Linked Combined Immunodeficiency Diseases Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. X-Linked Severe Combined Immunodeficiency,Combined Immunodeficiency, X-Linked,Immunodeficiency 4,Immunodeficiency 6,Immunodeficiency Diseases, X-Linked Combined,SCID, X-Linked,SCIDX,SCIDX1,Severe Combined Immunodeficiency, X-Linked,Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative,Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative,X-Linked Combined Immunodeficiency,X-Linked Immunodeficiency Disease,X-Linked Immunodeficiency Syndrome,X-Linked SCID,X-SCID,XSCID,Combined Immunodeficiency, X Linked,Immunodeficiency Disease, X-Linked,Immunodeficiency Diseases, X Linked Combined,Immunodeficiency Diseases, X-Linked,Immunodeficiency Syndrome, X-Linked,Immunodeficiency Syndromes, X-Linked,Immunodeficiency, X-Linked Combined,SCID, X Linked,SCIDs, X-Linked,Severe Combined Immunodeficiency, X Linked,X Linked Combined Immunodeficiency,X Linked Combined Immunodeficiency Diseases,X Linked Immunodeficiency Disease,X Linked Immunodeficiency Syndrome,X Linked SCID,X Linked Severe Combined Immunodeficiency,X-Linked Combined Immunodeficiencies,X-Linked Immunodeficiency Diseases,X-Linked Immunodeficiency Syndromes,X-Linked SCIDs

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