Last updated on May 20, 2013

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 IL2RG
 
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 BioLODNew! HPRD OMIM Entrez Gene NetPath Reactome PDB Ensembl HGNC Swiss-Prot RefDIC
8  IL2RG  02391 308380 3561 NetPath_M3561 3561 1ILL 1ILM 1ILN 1ITE 2B5I 2ERJ ENSG00000147168 6010 P31785 IL2RG
Disease name Characteristic / Associated features Category Inheritance type
X-linked combined immunodeficiency

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
X-linked severe combined immunodeficiency disease

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
   

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