title: Kostmann disease with developmental delay in three patients.
abstract: Kostmann disease is a rare autosomal recessive form of severe congenital neutropenia characterized by maturation arrest at the stage of promyelocytes/myelocytes in bone marrow with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/L and severe recurrent bacterial infections from early infancy. Kostmann disease is caused by homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1. Here, we report three patients with Kostmann disease who, besides recurrent infections, have developmental delay.
authors.affiliation: Dr. Sami Ulus Children's Health and Diseases Training and Research Center, 06080 Ankara, Turkey. caneraytekin@yahoo.com
authors.forename: Caner
authors.initials: C
authors.lastname: Aytekin
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Nilden
authors.initials: N
authors.lastname: Tuygun
authors.forename: Gonul
authors.initials: G
authors.lastname: Tanir
authors.forename: Figen
authors.initials: F
authors.lastname: Dogu
authors.forename: Aydan
authors.initials: A
authors.lastname: Ikinciogullari
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency* / Q000235:genetics; D017668:Age of Onset; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007223:Infant; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013577:Syndrome; D014421:Turkey
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D016179:Granulocyte Colony-Stimulating Factor