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Heterozygous M1V variant of ELA‐2 gene mutation associated with G‐CSF refractory severe congenital neutropenia by Bhuvana A. Setty; Nicholas D. Yeager; Rajinder P. Bajwa is a Medicine article available to read on EtoBox.

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

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Author

Bhuvana A. Setty; Nicholas D. Yeager; Rajinder P. Bajwa

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1545-5009)

Published

2011

Language

EN

Field

Medicine (Health Sciences)