Inherited immune disorders
IL7R-deficient severe combined immunodeficiency
IL7R-deficient SCID is a genetic disorder that prevents normal T-cell development. B cells and natural-killer cells are typically present, but the lack of effective T-cell immunity leaves a child vulnerable to serious infection.
Other names and abbreviations
IL7R-SCID · IL7RA deficiency · CD127 deficiency · T-B+NK+ SCID · SCID · severe combined immunodeficiency · primary immunodeficiency · T-B+ severe combined immunodeficiency due to IL-7 receptor alpha deficiency · Interleukin-7 receptor alpha deficiency
Where transplant fits
Allogeneic transplantation can provide cells that develop into functional T cells. A suitable related or unrelated donor may be used; conditioning and the expected pattern of immune recovery depend on the individual case.
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
- Usually detected in infancy or through newborn screening; both sexes can be affected.
- Other treatment options
- Infection prevention, treatment of active infection and immunoglobulin support may be needed while transplantation is arranged.
- 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
IL7R-related SCID differs from B-cell-negative SCID. A normal number of some lymphocytes does not mean normal immune protection, and a generic SCID graft protocol is not appropriate for every genotype.
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.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
Donate to JBFKeep learning
Why matching is hard: an interactive leukemia story
More in inherited immune disorders. Sharing a group does not mean sharing a treatment plan.
