Article
Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.
Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2021
Wang Juanjuan, Deng Qian, He Xiaoliang, Chen Denghuan, Hang Shouwei, Gao Yutong, Chen Yuqing
Abstract excerpt
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is a serious autosomal recessive genetic disease. So far, <40 cases have been reported worldwide, and only one case has been reported in China. The main clinical features of SIFD are sideroblastic or microcytic anemia, immune deficiency, and recurrent episodes of inflammation. Here, we describe two...
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