Inherited immune disorders
JAK3-deficient severe combined immunodeficiency
Also called: JAK3-SCID · JAK3 deficiency · T-B+NK- SCID · SCID · severe combined immunodeficiency · primary immunodeficiency · T-B+ severe combined immunodeficiency due to JAK3 deficiency · Autosomal recessive common gamma-chain-like SCID
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.
This page is not written out in full yet
We have not written this condition out in full yet. What is on this page — how a donor fits in, who it affects, and the sources behind that — is researched and linked, but the plain-English explanation of the condition itself is still to come.
What the evidence says
- Who it affects
- Typical onset/diagnosis: affected infants of either sex present in the newborn or infant period. Evidence: U.S. NIH GARD synthesis (updated 2026); no markedly enriched population was identified.
- Treatments other than a transplant
- Investigational gene correction — not approved — research — No approved autologous product.
- 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
JAK3-SCID resembles IL2RG-SCID immunophenotypically but is autosomal recessive; the two should remain separate census rows.; Conditioning intensity remains individualized to donor, infection status, and the need for B-cell reconstitution.
Registries need people
Joining a registry is a cheek swab and a short health form. You are not matched to a condition — you are matched to a person, and it could be someone with any of the conditions in this library. 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.
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
- T-B+ severe combined immunodeficiency due to JAK3 deficiency — NIH NCATS GARD, updated 2026-06
- EBMT Handbook Table 90.2: Main characteristics of severe combined immunodeficiencies — EBMT/Springer, 2024-04-11
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity — EBMT/ESID Inborn Errors Working Party, 2021