Vulvar lymphedema and refractory VIN-III heralding GATA2 deficiency syndrome
GATA-2 is a transcription factor expressed in haematopoietic stem cell cells involved in differentiation and in lymphatic development. Mutations in this molecule explain four different previously known syndromes: monocytopenia and mycobacterial infection syndrome (MonoMAC); dendritic cell, monocyte, B cell and NK cell lymphoid deficiency syndrome; familiar myelodysplastic syndrome/acute myeloid leukaemia syndrome and Emberger syndrome (primary lymphedema with myelodysplastic syndrome) [1,2].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Pedro Álvarez-Chinchilla, Inés Poveda, Francisco M. Marco, José A. López-Fernández, Gloria Peiro, Francisco Illán, Jaime Guijarro Tags: Correspondence Source Type: research
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