has material basis in germline mutation in TRNT1 syndromic disease immune system disorder congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome https://github.com/monarch-initiative/mondo/issues/6747 https://www.malacards.org/card/congenital_sideroblastic_anemia_b_cell_immunodeficiency_periodic_fever_developmental_delay_syndrome https://www.malacards.org/card/sideroblastic_anemia_with_b_cell_immunodeficiency_periodic_fevers_and_developmental_delay UMLS:C4015172 SIFD syndrome DOID:0080209 GARD:0017586 MEDGEN:863609 Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. MONDO:0014487 SIFD OMIM:616084 Orphanet:369861 sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay inherited sideroblastic anemia