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 × 109/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. Pediatr Blood Cancer 2011; 57: 514–515. © 2011 Wiley‐Liss, Inc.