A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome,Pediatric Allergy, Immunology, and Pulmonology

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A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome
Pediatric Allergy, Immunology, and Pulmonology ( IF 0.9 ) Pub Date : 2022-09-16 , DOI: 10.1089/ped.2022.0090
Rabia Miray Kisla Ekinci ₁ , Aslıhan Zararsiz ₂ , Gizem Urel Demir ₃ , Ozlem Anlas ₄

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Introduction: Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement.

中文翻译：

对依那西普有良好反应的儿科患者罕见的自身炎症性疾病：伴 B 细胞免疫缺陷、周期性发热和发育迟缓综合征的铁粒幼细胞性贫血

简介：伴 B 细胞免疫缺陷、周期性发热和发育迟缓 (SIFD) 综合征的铁粒幼细胞性贫血是由双等位基因 TRNT1 突变引起的。TRNT1 基因编码一种添加 CCA 的 tRNA 核苷酸转移酶。突变的 TRNT1 导致不同程度的免疫缺陷和贫血，并伴有多个器官受累。

更新日期：2022-09-20

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