title: Eponym. Kostmann disease.
abstract: Rolf Kostmann (1909-1982) was a Swedish pediatrician and army doctor. He was the first to describe an inherited form of chronic neutropenia in childhood. In 1956, Kostmann published his article "Infantile genetic agranulocytosis" in Acta Paediatrica. "Infantile agranulocytosis," as Rolf Kostmann named this hereditary syndrome, has been known for more than half a century, yet the underlying genetic mutations have remained unknown for many decades. Fifty years later, homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1 were found in affected members of the original Kostmann pedigree. Therefore, the eponym "Kostmann disease" best fits this specific mutation and mode of inheritance. The identification of genetic cause now allows the analysis of genotype-phenotype correlations. After the development of recombinant human granulocyte colony-stimulating factor (G-CSF), the prognosis and quality of life improved dramatically. Hematopoietic stem cell transplantation remains the only currently available treatment for refractory cases to G-CSF and patients who have transformed into leukemia.
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; D004850:Eponyms; D049673:History, 20th Century; D006801:Humans; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000266:history*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human