congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
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:0002254
syndromic disease
is_a
MONDO:0005046
immune system disorder
is_a
MONDO:0020099
inherited sideroblastic anemia
is_a
SIFD
exact
SIFD syndrome
exact
sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay
related
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
related
SPCC645.10 SPAC1093.04c