Inherited immune disorders
CD40 ligand deficiency
Also called: CD40LG deficiency · CD40L deficiency · HIGM1 · XHIGM · XHIM · CD154 deficiency · hyper IgM syndrome · primary immunodeficiency
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: this X-linked disorder affects boys and men, usually presenting with infection in infancy or early childhood. Evidence: Europe/international EBMT/ESID guidance (2021); no markedly enriched geographic population was identified.
- Treatments other than a transplant
- Immunoglobulin replacement, antimicrobial prophylaxis, and infection-directed therapy — standard noncurative management — multiple regions — Long-term supportive care remains an alternative when HCT risk is unacceptable.
- 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
Published practice varies between early elective HCT and prolonged immunoglobulin-based management in clinically stable patients.; The disease should not be merged with autosomal-recessive CD40 deficiency or AID/UNG hyper-IgM syndromes, whose transplant indications differ.
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.
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
- Hyper IgM syndromes (HIGM) — Immune Deficiency Foundation, opened 2026-07-31
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity — EBMT/ESID Inborn Errors Working Party, 2021
- EBMT Handbook, Chapter 90: Inborn Errors of Immunity — EBMT/Springer, 2024-04-11