Radiation-sensitive severe combined immunodeficiency


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.

Additional information

The guidelines for the NCG service for immunodeficiencies apply to the molecular analysis of RS-SCID (details on request).

Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust