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.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
HPV vaccine shows promise for girls on Immune-Suppressing drugs
⭐️ VACCINE ⭐️ CompletedThis study looked at whether the HPV vaccine works in girls aged 9 to 17 who are taking medicines that weaken their immune system, such as after an organ transplant or for diseases like lupus. The goal was to see if their bodies produce enough antibodies to protect against HPV. T…
Phase: PHASE2 • Sponsor: University Hospital, Bordeaux • Aim: ⭐️ VACCINE ⭐️
Last updated Jun 27, 2026 12:36 UTC
-
New transplant cocktail aims to cut complications in bone marrow failure
Disease control CompletedThis phase 2 trial tested a combination of treosulfan, fludarabine, and rabbit antithymocyte globulin before a bone marrow transplant in 40 people with bone marrow failure diseases like Diamond-Blackfan anemia and Shwachman-Diamond syndrome. The goal was to see if this conditioni…
Phase: PHASE2 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
Obesity may affect immune drug dosing – study seeks answers
Knowledge-focused CompletedThis study investigates how obesity affects the way the body processes intravenous immune globulin (IVIG), a treatment for immune deficiencies. Researchers measured body composition and blood levels of IVIG in 40 obese and normal-weight patients to find the best dosing strategy. …
Sponsor: Rutgers, The State University of New Jersey • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
-
Scientists gather clues on mysterious immune defects
Knowledge-focused CompletedThis study collected blood, saliva, stool, urine, and skin samples from 19 people with unknown or poorly understood immune system problems. The goal was to learn how different parts of the immune system work together. No treatments or drugs were tested. Participants were followed…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:58 UTC