GATA2 deficiency with susceptibility to MDS/AML
MONDO:0042982A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).
Also known as: GATA2 deficiency, GATA2 deficiency with susceptibility to MDS/AML, GATA2 deficiency/MonoMac syndrome
21 clinical trials for this condition and its sub-types.
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New drug could make stem cell transplants safer for rare immune disorder
Disease control OngoingThis phase II trial tests whether a new drug called Briquilimab can make stem cell transplants safer for people with GATA2 deficiency, a rare genetic condition that weakens the immune system and raises the risk of infections and blood cancers. The study involves 13 participants a…
Phase: PHASE2 • Sponsor: National Institutes of Health Clinical Center (CC) • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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Double transplant breakthrough offers hope for rare immune disorder patients
Disease control ENROLLING_BY_INVITATIONThis study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…
Phase: PHASE1, PHASE2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC