title: [Infantile genetic agranulocytosis (Kostmann syndrome)].
abstract: Infantile genetic agranulocytosis is characterized by recurrent infections usually leading to death in infancy or early childhood. Besides the severe neutropenia it shows variable monocytosis and hypergammaglobulinemia in the peripheral blood, and a maturation arrest at the promyelocyte-myelocyte level in the bone marrow. Consanguinity in some families, and occurrence in siblings indicate a recessive autosomal inheritance. Successful bone marrow transplantation suggests that the disorder is due to an intrinsic defect of the hematopoietic stem cell.
mesh_terms: D000380:Agranulocytosis / Q000150:complications / Q000235:genetics* / Q000628:therapy; D001424:Bacterial Infections / Q000150:complications; D001772:Blood Cell Count; D016026:Bone Marrow Transplantation; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009000:Monocytes; D011379:Prognosis; D012008:Recurrence; D013577:Syndrome
vernacular_title: Die infantile genetische Agranulocytose (Kostmann-Syndrom).