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Natural History Study of GATA2 Deficiency and Related Disorders

Recruitingn/aAges 2 Years - 100 YearsAllNational Institute of Allergy and Infectious Dise…
NCT01905826 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Background: \- GATA2 deficiency is a genetic disorder that can cause problems with a person s immune system and other body systems. Some people who have this disorder develop few problems from it. Others can have a wide range of health problems, from skin problems, to hearing loss, to cancer. These problems can happen at any age. Researchers want to study GATA2 deficiency to better understand what types of health problems it can cause, and why it causes problems in some people but not others, and at different ages. Objectives: \- To improve understanding of GATA2 deficiency so there can be better diagnostic tests and treatments in the future. Eligibility: \- People 2 years of age or older who have a GATA2 gene mutation or certain health conditions that are commonly seen in people with this mutation and their blood relatives. Design: * Participants will be screened with a physical

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📋 Eligibility rules (as published)
* 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.
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What it tests

  • Not listed
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Where

1 site
National Institutes of Health Clinical Center
Bethesda, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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