/congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Rare Disease

MONDO:0014487

Also Known As

SIFDSIFD syndromesideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delaysideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Definition

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.

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Associated Genes

TRNT1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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