Natural History Study of GATA2 Deficiency and Related Disorders

Official record

Identifier

NCT01905826

Recruiting locations

country

United States

Interventions studied

Not provided in the official record

Lead sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Target enrolment

600 participants

Study type

OBSERVATIONAL

Phase

Not provided in the official record

Status

Recruiting

First posted

Jul 23, 2013

Last updated on the registry

Sep 22, 2026

Age

2 Years – 100 Years

Sex

ALL

Study contact

The official record lists a study contact. Contact details are published there and are intentionally not copied to this page.

Eligibility criteria

Reproduced verbatim from the official record. Eligibility is decided by the study team, never by this page.

* INCLUSION CRITERIA:

Males and females greater than or equal to 2 years old must meet the following criteria to be eligible for participation in this study:

* 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.

RELATIVE INCLUSION CRITERIA:

Blood relatives, male or female, greater than or equal to 2 years old, of any patient on this study. If a relative is positive for GATA2 then they could become a patient on the study.

SUBJECT EXCLUSION CRITERIA:

Individuals with any condition or who are taking any medications that, in the opinion of the investigator, contraindicates participation in the study will be excluded.

Indexed under

Leukemia