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Heterozygous M1V variant of ELA‐2 gene mutation associated with G‐CSF refractory severe congenital neutropenia
Author(s) -
Setty Bhuvana A.,
Yeager Nicholas D.,
Bajwa Rajinder P.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.23018
Subject(s) - congenital neutropenia , neutropenia , medicine , promyelocyte , granulocyte colony stimulating factor , refractory (planetary science) , absolute neutrophil count , granulocyte , bone marrow , immunology , chemotherapy , biology , astrobiology
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.