mRNA IDs | Primary Information | |
NM_000734.2,NM_198053.1 | Gene Symbol | CD247 |
Protein Name | Cd247 molecule | |
Alternate Names | CD3-ZETA, CD3H, CD3Q, CD3Z, TCRZ | |
Gene Locus | 1q22-q23 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
CD3Zeta deficiency | Erythroderma; protracted diarrhea; pulmonary abscesses; recurrent episodes of herpes simplex virus infection; episodes of oral infections with Candida albicans; episodes of skin infections with Candida albicans; Recurrent pneumonia; reduced number of circulating T cells; normal number of B cells; normal number of NK cells; absent gamma/delta T cells | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |