Kostmann syndrome
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0028226
autosomal recessive severe congenital neutropenia
is_a
SCN3
related
agranulocytosis infantile
related
infantile agranulocytosis
exact
neutropenia, severe congenital 3, autosomal recessive
exact
neutropenia, severe congenital, 3, autosomal recessive
related
severe congenital neutropenia autosomal recessive 3
related
severe congenital neutropenia type 3
exact