Condition: Severe congenital neutropenia


rs141970914 in HAX1 gene and Severe congenital neutropenia PMID 19796188 2009 A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).

PMID 20220065 2010 Digenic mutations in severe congenital neutropenia.

PMID 17187068 2007 HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

PMID 18337561 2008 Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.

PMID 19036076 2009 Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

PMID 20065084 2010 Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.

PMID 24482108 2014 Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.

PMID 22102707 2012 A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities.

rs587777727 in JAGN1 gene and Severe congenital neutropenia PMID 25129144 2014 JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.