five

GATA2 Deficiency

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NIAID Data Ecosystem2026-04-25 收录
下载链接:
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs002311.v1.p1
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Inclusion Criteria Participant must meet one of the following criteria to be enrolled in this study:• Has been previously enrolled in the NIAID clinical protocol 13-I-1057 OR• Is a family members of patients previously enrolled in the NIAID clinical protocol 13-I-1057Exclusion Criteria• Inability to provide informed consent.]]> GATA2 Deficiency patients harbor de novo or inherited germline mutations in the transcription factor gene GATA2 which predisposes them to immune deficiency, bone marrow failure and myeloid malignancies. However, there is remarkable variation in the development of MDS and leukemia in individuals with GATA2 Deficiency, even within the same family. ]]>
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2020-12-11
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