IL2RG
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000206.1 Gene Symbol IL2RG
Protein Name Interleukin 2 receptor, gamma (severe combined immunodeficiency)
Alternate Names CD132, IMD4, SCIDX, SCIDX1
Gene Locus Xq13.1

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
8 02391 308380 3561 NetPath_M3561 3561 1ILL
1ILM
1ILN
1ITE
2B5I
2ERJ
6010 ENSG00000147168 P31785 IL2RG

Disease name Characteristic / Associated features Category inheritance type
Combined immunodeficiency, X-linked Failure to thrive; oral trush; Absent tonsils; persistent infections; lack of delayed hyersensitivity; lymphocytopenia; thymus atrophy; Absent T lymphocytes; recurrent sinusitis; paucity of lymphoid tissues; otitis media; bronchitis; pneumonia; severe varicella; chronic papillomavirus infections; Hepatomegaly; Chronic diarrhea; Candidal diaper rash; Erythematous skin rashes; recurrent bacterial meningitis; Frequent bacterial, fungal and viral infections; Specific antibody production very poor; Decreased numbers of natural killer cells (NK); decreased natural killer cell mediated cytotoxicity; Abnormality of the thymus; Lymphoid depletion; Lymph nodes are small and poorly developed; Low absolute lymphocyte count; Agammaglobulinemia; normal or increased circulating B cells Combined T-cell and B-cell immunodeficiencies X-linked
X-linked SCID; Combined immunodeficiency, X-linked Sinusitis; Otitis media; Bronchitis; Pneumonia; Paucity of lymphoid tissue; Normal number of natural killer cells; Decreased number of CD4+ T cells; Decreased number of CD8+ T cells; Diminished proliferative response of T cells to allogenic cells, mitogens, and antigens; Reduced production of interleukin 2 by mitogen stimulated blood lymphocytes; Decreased IgG Combined T-cell and B-cell immunodeficiencies X-linked