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
8 clinical trials for this condition and its sub-types.
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Broader categories
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Can a stem cell transplant fix a rare genetic immune disorder?
Disease control Recruiting nowThis study tests whether a stem cell transplant from a healthy donor can treat GATA2 deficiency, a rare genetic condition that weakens the immune system and raises the risk of leukemia. Participants aged 6 to 70 with GATA2 mutations will receive chemotherapy or radiation before t…
Phase 2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Sep 02, 2026 00:00 UTC
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Stem cells harvested for lab tests in immune disorder gene therapy quest
Knowledge-focused Recruiting nowThis study collects blood stem cells from adults aged 18-40 with DOCK8 deficiency, LAD-1, or GATA2 deficiency. Participants receive daily injections of G-CSF for 5 days to move stem cells into the blood, then undergo a single leukapheresis procedure to collect them. The cells are…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 09, 2026 18:10 UTC
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Massive gene hunt aims to unlock secrets of immune disorders
Knowledge-focused Recruiting nowThis study is looking for the genes that cause certain immune system problems. Researchers want to understand why some people get sick and others don't, even in the same family. Up to 5,000 people with immune disorders and their relatives will give blood or cheek cell samples for…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 06, 2026 00:00 UTC
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Scientists track rare genetic disorder to unlock its secrets
Knowledge-focused Recruiting nowThis study follows 600 people with GATA2 deficiency, a genetic disorder affecting the immune system and other body systems. Researchers aim to understand the full range of health problems it causes and why it affects people differently. Participants will have yearly check-ups for…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Sep 05, 2026 00:00 UTC
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Hunt for hidden cancer genes: families needed to unlock hereditary secrets
Knowledge-focused Recruiting nowThis study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC