Sequence analysis including all exon and exon-intron junction regions of ELANE/ELA-2, HAX1 and WAS gene for congenital neutropenia was also performed by DNA isolation from the patient's peripheral venous blood.
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: A novel mutation in two unrelated British kindreds.
Recent reports show that homozygous mutations in the HAX1 gene are responsible for an autosomal recessive form of SCN, in about one-third of SCN patients .
Considering his past history, family history, and physical examination, SCN associated with ELANE or HAX1 abnormality was suspected.
We propose that direct protein-protein interaction of HAX1 with PB1-F2 may be critical in PB1-F2-induced apoptosis and viral replication in H9N2 virus-infected human lung epithelial cells.
Lentiviral vectors expressing shRNAs, specifically targeting HAX1 gene, were applied to obtain HAX-1 stable knockdown cell lines.
Gene mutation examinations (ELA2, GFI-1, WAS, SBDS (Shwachman-Diomand syndrome), HAX1, TAZ (Barth syndrome), Fanconi genes, LYST (Chediak Higashi syndrome), G6PC3 deficiency)
Until the present time, a total of 19 gene defects including 7 gene mutations leading to congenital neutropenia (ELANE; CXCR4, SBDS, PT14, HAX1, G6PC3, RUNX1) and different genetic diseases accompanied by neutropenias have been identified (12).
In the search of a gene responsible for the recessive inheritance observed in 20 Middle Eastern children mostly from Turkey and three Swedish children from the original Kostmann family, a new genetic locus at chromosome 1 821.3, HAX1
, was linked to SCN .
Klimenkova et al., "Interactions among HCLS1, HAX1
and LEF-1 proteins are essential for GCSF-triggered granulopoiesis," Nature Medicine, vol.
regulates neutrophil adhesion and motility through RhoA," Journal of Cell Biology, vol.
Mutation in HAX1
gene was found in four of the patients and mutation in G6PC3 gene was found in two by comparing with the main gene.