Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)

PURPOSE: Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1). Efficacious methods to treat SIFD are lacking. We identified two novel mutations...

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Detalles Bibliográficos
Autores principales: Li, Yan, Deng, Mengyue, Han, Tongxin, Mo, Wenxiu, Mao, Huawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893968/
https://www.ncbi.nlm.nih.gov/pubmed/36729249
http://dx.doi.org/10.1007/s10875-023-01441-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893968/
https://www.ncbi.nlm.nih.gov/pubmed/36729249
http://dx.doi.org/10.1007/s10875-023-01441-7

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