Kostmann syndrome
Kostmann disease

Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.

Kostmann syndrome is inherited in an autosomal recessive manner, but may occasionally be autosomal dominant.

Severe congenital neutropenia (Kostmann syndrome).

Homozygous mutations in HAX1 are associated with autosomal recessive severe congenital neutropenia, also known as Kostmann syndrome.

Kostmann syndrome, also known as severe congenital neutropenia, autosomal recessive type 3 (SCN3) and Kostmann disease, is a rare autosomal recessive form of severe chronic neutropenia usually detected soon after birth.

Homozygous mutations in the HAX1 gene are associated with Kostmann disease, i.e. the "classical," autosomal recessive form of severe congenital neutropenia (SCN3).

Kostmann syndrome, also known as severe congenital neutropenia, autosomal recessive type 3 (SCN3) and Kostmann disease, is a rare autosomal recessive form of severe chronic neutropenia usually detected soon after birth.