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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Detalles Bibliográficos
Autores principales: Chen, Xiangyuan, Fu, Fang, Mo, Xiaolan, Cheng, Suyun, Zeng, Huasong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017860/
https://www.ncbi.nlm.nih.gov/pubmed/36937953
http://dx.doi.org/10.3389/fped.2023.1001222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017860/
https://www.ncbi.nlm.nih.gov/pubmed/36937953
http://dx.doi.org/10.3389/fped.2023.1001222

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