Jada Bascom Foundation
All conditions

Inherited immune disorders

IL7R-deficient severe combined immunodeficiency

Also called: 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

What a donor has to do with this

For some people with this condition, a transplant using blood stem cells from an unrelated donor is part of the treatment guidelines. When a transplant is the right route and no one in the family matches, that donor comes from a registry. Not everyone with this condition has a transplant, and many never need one.

This is our reading of published transplant guidelines for this condition, not a measurement of how many people need a donor. Where a source actually counted donors, the figure and the people it counted are shown further down. Where none did, we say so rather than estimate.

What the evidence says

Who it affects
Typical onset/diagnosis: infants of either sex present in the first months of life with T-B+NK+ SCID. Evidence: U.S. Duke discovery series (1998) and GeneReviews founder-variant synthesis (2023); IL7R c.2T>G is enriched in Weaverland and Groffdale Mennonites and reported with approximately 100% penetrance.
Treatments other than a transplant
Antimicrobial prophylaxis and immunoglobulin replacement — supportive/bridge to HCT — multiple regions — No approved disease-specific gene therapy.
If a transplant is used, the cells come from
bone marrow: used in opened IEI transplant guidance; disease-specific share was not reported; mobilized peripheral blood stem cells: used in opened IEI transplant guidance; disease-specific share was not reported; umbilical cord blood: used as an alternative in opened IEI transplant guidance; disease-specific share was not reported; dominance: no dominant graft source was reported in the opened disease-specific sources
How often the donor was unrelated
Not reported. No source we could read states this for this condition, so we do not give a number. An estimate here would be a guess dressed as evidence.

Where this gets complicated

IL7R-SCID retains B and NK cells, distinguishing it from IL2RG- and JAK3-associated T-B+NK- SCID.; The approximately 100% penetrance figure comes from the 2023 U.S. GeneReviews table for the Weaverland/Groffdale Mennonite founder variant, not worldwide IL7R-SCID.

People with this condition need donors

Joining a registry is a cheek swab and a short health form. You are contacted only if you turn out to be a possible match for someone, and you can ask questions and decline before anything else happens.

Find your registry

Related conditions

Others in inherited immune disorders. They are genuinely different diseases with different treatments — the group name is not a diagnosis.

Where this came from