Inherited immune disorders
DCLRE1C-associated Artemis-deficient severe combined immunodeficiency
Artemis-deficient SCID is caused by DCLRE1C variants that impair DNA repair needed to build immune-cell receptors. Severe forms lack effective T- and B-cell immunity; partial defects can present differently or later.
Other names and abbreviations
ART-SCID · DCLRE1C-SCID · T-B-NK+ SCID · radiosensitive SCID · SCID · severe combined immunodeficiency · Severe combined immunodeficiency due to DCLRE1C deficiency · Artemis-deficient SCID
Where transplant fits
Allogeneic transplantation can restore immune-cell production, using a suitable related or unrelated donor. Conditioning requires particular care because Artemis deficiency increases sensitivity to some DNA-damaging treatments.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Classic SCID usually presents in infancy or is detected by screening; hypomorphic variants can produce later combined immunodeficiency.
- Other treatment options
- Infection prevention, treatment of existing infections and immunoglobulin support are used while definitive therapy is planned. Autologous gene therapy has been studied in clinical trials.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
Immune correction does not remove the DNA-repair defect from all tissues. Late growth and dental toxicity after alkylating conditioning are important considerations.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021 - Inborn Errors of Immunity
EBMT Handbook · 2024-04-11
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
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