Inherited immune disorders
GATA2 deficiency syndrome
Also called: GATA2 deficiency · MonoMAC · DCML deficiency · MonoMAC syndrome · Emberger syndrome · GATA2 haploinsufficiency
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: manifestations usually emerge in adolescence or early adulthood; median myeloid-neoplasm diagnosis is 17 years (range 0–78). Evidence: U.S. National Cancer Institute synthesis (updated 2024); no markedly enriched population was identified.
- Treatments other than a transplant
- Surveillance, antimicrobial prophylaxis, and manifestation-directed treatment — noncurative management — multiple regions — Does not eliminate progression to MDS/AML or severe infection.
- 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
Family members can carry occult GATA2 deficiency and must not be accepted as related donors without molecular testing.; Optimal preemptive timing before clonal progression is unresolved because penetrance and pace vary widely.
“It is widely accepted that timely hematopoietic stem cell transplantation (HSCT) is the only curative approach for symptomatic GATA2-deficient patients.”
It describes what teams consider in general. It cannot say what applies to any one person. Read the source.
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
- GATA2 Deficiency Syndrome PDQ — US National Cancer Institute, updated 2024-08-22
- EBMT Handbook, Chapter 90: Inborn Errors of Immunity — EBMT/Springer, 2024-04-11
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity — EBMT/ESID Inborn Errors Working Party, 2021