Common cutaneous signs unmasking a severe hematological disorder: GATA2 deficiency.

Abstract excerpt

GATA2 deficiency is a rare genetic disorder with heterogeneous clinical manifestations affecting the immune, hematologic, and vascular systems. We report the case of a 31-year-old woman with primary lymphedema progressing since childhood, associated with diffuse treatment-resistant warts and severe monocytopenia. Genetic testing revealed a mutation in the GATA2 gene (c.1078T>C), resulting in complete loss of...

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