Kostmann disease was first described in 1956 as an autosomal recessive disorder characterized by severe neutropenia and onset of severe bacterial infections early in life.
In his pivotal doctoral thesis, Rolf Kostmann studied 14 affected children from an inbred family from the province of Norrbotten, Sweden. He reported that the neutropenia was accompanied by “a primary insufficiency of the bone marrow” and that the disease is determined by a “single recessive gene difference.” Fifty years later, homozygous mutations in the gene encoding the mitochondrial protein HCLS1-associated X1 (HAX1) were found in affected descendants of the original Kostmann family.
Today, the condition initially described by Kostmann is referred to as Kostmann disease. However, it is now apparent that congenital neutropenia is a genetically heterogeneous group of related disorders and, therefore, is designated as severe congenital neutropenia. Severe congenital neutropenia demonstrates several modes of inheritance, including autosomal recessive, autosomal dominant, sporadic, and X-linked forms.