HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Klein C, Grudzien M, Appaswamy G. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007, 39:86-92.
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
Carlsson G, van't Hooft I, Melin M. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008, 264:388-400.
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
Germeshausen M, Grudzien M, Zeidler C. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008, 111:4954-4957.
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
Ishikawa N, Okada S, Miki M. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 2008, 45:802-807.
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
Smith BN, Ancliff PJ, Pizzey A. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol 2009, 144(5):762-770.
Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency
Matsubara K, Imai K, Okada S. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica 2007, 92:e123-e125.