mRNA IDs | Primary Information | |
NM_002185.2 | Gene Symbol | IL7R |
Protein Name | Interleukin 7 receptor | |
Alternate Names | CD127, CDW127, IL-7R-alpha | |
Gene Locus | 5p13 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Interleukin-7 receptor Alpha deficiency; Omenn syndrome | Preserved NK cell numbers; preserved NK cell function; severe and persistent viral and protozoan infections; recurrent bacterial infections; otitis media; sepsis; chronic viral infections; pneumocystis infectious disease; failure to thrive; diarrhoea; reduced number of circulating T cells | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |