Study of GATA2 deficiency causes and health outcomes
Part of Blood & lymphatic, Cancer, Genetic & congenital, Infections, Skin clinical trials.
This natural history study looks at how GATA2 deficiency (a genetic condition) affects health over time. It may help doctors better understand complications and plan future care, and it includes genetic testing and stored samples.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are age 2 or older
- You have a proven GATA2 gene change from genetic testing, or signs of GATA2 deficiency
- If you do not have the gene change, you must have certain infection/blood/organ signs or specific low blood cell counts
- You agree to have genetic testing done
- You agree to let the study store your blood/samples for future research
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This trial tests a bone marrow transplant (called allogeneic hematopoietic stem cell transplant) as a treatment for people with GATA2 mutations or MonoMAC. The goal is to replace faulty immune cells with healthy donor cells, which may reduce infections and improve immune function.
This research looks at how inherited (genetic) changes may affect the immune system in people with immune problems. It may help by improving understanding of these conditions and, in some cases, guiding faster care for a baby after birth.
This study looks for genetic causes of immune problems, such as unusually frequent infections, abnormal allergies, or autoimmune or inflammation conditions. It may help by improving how doctors understand these disorders and by matching families with possible genetic diagnoses.
This study looks at the natural course of bone marrow failure conditions, both inherited and acquired. It aims to understand how these diseases progress over time, which may help guide future treatments.
This study collects and sequences (reads) your DNA to help researchers understand health and disease. You may be invited because you are connected to another NIH study, and you must agree to testing, sample storage, and sharing de-identified genetic data for future research.
This study tracks people with LCAT deficiency over time to learn more about how the condition affects the body. It does not test a treatment, but helps researchers understand the disease better so they can design future studies.
Hear when a new GATA2 Deficiency trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.