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GATA 2 Deficiency: Focus on Immune System Impairment

13 Jun 2022

Abstract excerpt

GATA2 deficiency is a disease with a broad spectrum of clinical presentation, ranging from lymphedema, deafness, pulmonary dysfunction to miscarriage and urogenital anomalies, but it is mainly recognized as an immune system and bone marrow disorder. It is caused by various heterozygous mutations in the GATA2 gene, encoding for a zinc finger transcription factor with a key role for the development and maintenance...

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PMID: 35769478
DOI: 10.3389/fimmu.2022.865773

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