mRNA IDs | Primary Information | |
NM_001033855.1,NM_001033857.1,NM_001033858.1,NM_022487.2 | Gene Symbol | DCLRE1C |
Protein Name | Dna cross-link repair 1c (pso2 homolog, s. cerevisiae) | |
Alternate Names | A-SCID, DCLREC1C, FLJ11360, FLJ36438, RS-SCID, SCIDA, SNM1C, ARTEMIS | |
Gene Locus | 10p13 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Artemis deficiency; Omenn syndrome | Failure to thrive; Otitis media; Oral ulcers; Absent tonsils; Recurrent upper respiratory tract infections; Pneumonia; Diarrhea; Genital ulcers; Reduced/absent CD3+ T cells; Very low lymphocyte proliferation in response to mitogens and alloantigens; Absent thymus; Small lymph nodes; Panhypogammaglobulinemia; defective VDJ recombination; radiation Sensitivity | Combined T-cell and B-cell immunodeficiencies | Autosomal recessive |