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Understanding GATA2 Deficiency and Related Disorders

This study is looking for people with GATA2 deficiency, a genetic condition that can affect your immune system and other parts of your body. Researchers want to learn more about the full range of health problems GATA2 deficiency can cause, and why some people have more severe problems than others, or at different ages. The goal is to better understand this condition so that improved tests and treatments can be developed in the future. You can join if you are 2 years old or older and have a confirmed GATA2 mutation, or if you have strong clinical signs of GATA2 deficiency. This is an observational study, meaning researchers will follow your health over time rather than testing a specific treatment.

Study design
This is an observational study planning to enroll 600 participants. It is not testing a specific intervention.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01905826

Natural History Study of GATA2 Deficiency and Related Disorders

Recruiting
Not specifiedAges 2+Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~600 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Prospectively follow patients with GATA2 deficiency or phenotypic characteristics strongly consistent with GATA2 deficiency to characterize the full spectrum of clinical disease, better understand the reasons for phenotypic variability, better u...
Measured over ongoing

Conditions

GATA2 Deficiency

Explore related trials

GATA2 DeficiencyHerpesvirusHuman Papillomavirus InfectionLeukemiaMycobacterial InfectionMyelodysplastic Syndrome

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Steven M Holland, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Audrey M Neale
[email protected]
(240) 506-4024
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Have a mutation in GATA2 proven by genetic testing (previous test results will be accepted) OR meet both of the following criteria:
Clinical characteristics strongly consistent with GATA2 deficiency per the following criteria and at the discretion of the principal investigator (PI). Individuals without a GATA2 mutation must have a past or present history of 1 or more of the following to be considered for study enrollment:
Disseminated NTM or invasive fungal infection.
Severe or recurrent HPV or herpesvirus infection.
MDS, AML, or CMML.
Biopsy-proven PAP.
Laboratory characteristics strongly consistent with GATA2 deficiency per the following criteria. Individuals without a GATA2 mutation must have 1 or more of the following to be considered for study enrollment:
Absolute monocyte count \<240 cells/microL.
Absolute B lymphocyte count \<60 cells/microL.
Absolute NK lymphocyte count \<126 cells/microL.
Agree to undergo genetic testing.
Allow their samples to be stored for future research.

What this trial measures

  • Prospectively follow patients with GATA2 deficiency or phenotypic characteristics strongly consistent with GATA2 deficiency to characterize the full spectrum of clinical disease, better understand the reasons for phenotypic variability, better u...ongoing

    Collecting information on GATA2 deficiency.