mRNA IDs | Primary Information | |
NM_002838.3,NM_080921.2,NM_080922.2,NM_080923.2 | Gene Symbol | PTPRC |
Protein Name | Protein tyrosine phosphatase, receptor type, c | |
Alternate Names | B220, CD45, GP180, LCA, LY5, T200 | |
Gene Locus | 1q31-q32 |
External links | ||||||||||||||||||||||||
|
Disease name | Characteristic / Associated features | Category | inheritance type |
CD45 deficiency | Failure to thrive; chronic diarrhea; respiratory distress; pneumocystosis; recurrent bacterial infections; disseminated BCG infection; normal gamma/delta T cells; reduced number of circulating T cells; normal number of B cells | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |