TRNT1 and congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome: This study reports the case of a 21-month-old female patient with SIFD and compound heterozygous mutations c.824T > A, p.Leu275X (a novel variant) and c.1246 A > G, p.Lys416Glu in TRNT1 gene.