DCLRE1C mutations cause a T and B cell deficient form of SCID that is clinically indistinguishable from a RAG1/RAG2 disorder. Infants present with severe recurrent viral, bacterial or fungal infections and failure-to-thrive. Defects in DCLRE1C can be distinguished from RAG defects because the former has the additional feature of increased sensitivity to ionising radiation in bone marrow and fibroblast cells.
Also known as
Artemis, DNA cross-link repair protein 1C, T cell-negative (T-) B cell-negative (B-) natural killer cell-positive (NK+) severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID), Athabaskan-type SCID (SCIDA)
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
Download the referral form >
The guidelines for the NCG service for immunodeficiencies apply to the molecular analysis of RS-SCID (details on request).
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
Call in advance?
Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis