title: Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.
abstract: Severe congenital neutropenia is an autosomal recessive disorder characterized by maturation arrest at the promyelocyte/myelocyte phase in the bone marrow, absolute neutrophil count <0.5 × 10(9) /L and recurrent bacterial infections. Homozygous mutations of either HAX-1 or ELA-2 have been described. We report the case of a premature male infant with congenital neutropenia, associated with multiple infections, refractory to treatment with granulocyte colony stimulating factor who subsequently underwent matched sibling donor stem-cell transplant. He was found to be heterozygous for the M1V variant of the ELA-2 gene that we postulate to be causative for his severe neutropenia
authors: Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA. bhuvana.setty@nationwidechildrens.org
authors: Bhuvana A
authors: BA
authors: Setty
authors: Nicholas D
authors: ND
authors: Yeager
authors: Rajinder P
authors: RP
authors: Bajwa