Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis

BackgroundGATA2 deficiency, a syndrome caused by heterozygous loss-of-function variants in the GATA2 gene, is characterized by immunodeficiency, bone marrow failure, and predisposition to myeloid neoplasms. Its clinical presentation is highly variable, making early diagnosis challenging. Although GA...

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Main Authors: Miko Morimoto, Takuro Nishikawa, Atsushi Hijikata, Hiroshi Kasabata, Nobuhisa Maeda, Shuji Kanmura, Shogo Horikawa, Jun Nagahama, Aki Nakamura, Tatsuro Nakamura, Takanari Abematsu, Shunsuke Nakagawa, Kazuhiro Shimura, Satoshi Narumi, Hirokazu Kanegane, Yasuhiro Okamoto
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Immunology
Subjects:
acute myeloid leukemia
Crohn disease
GATA2 gene
hematopoietic stem cell transplantation
myelodysplastic syndrome
structural analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1644552/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1644552/full

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