Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant.

Abstract excerpt

Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the TRNT1 gene, encoding tRNA nucleotidyltransferase 1, an enzyme essential for mitochondrial and cytosolic protein translation. The disease is characterized by a wide phenotypic spectrum, ranging from isolated hematological involvement...

Topics

• Humans
• Anemia, Sideroblastic
• Developmental Disabilities
• Male
• B-Lymphocytes