Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1). The main clinical features of SIFD are periodic fevers, dev...

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Bibliographic Details
Main Authors: Xiangyuan Chen, Fang Fu, Xiaolan Mo, Suyun Cheng, Huasong Zeng
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Pediatrics
Subjects:
SIFD
TRNT1
immunodeficiency
periodic fever
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1001222/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1001222/full

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