Novel case of ELANE-related severe congenital neutropenia with initially normal bone marrow
Corresponding Author
Camille Keenan
Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Correspondence
Camille Keenan, St. Jude Children's Research Hospital, 262 Danny Thomas Pl, Mail Stop 343, Memphis, TN, 38105, USA.
Email: [email protected]
Search for more papers by this authorMichelle Boals
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorSara Lewis
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorGabriela Gheorghe
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorRohith Jesudas
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorCorresponding Author
Camille Keenan
Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Correspondence
Camille Keenan, St. Jude Children's Research Hospital, 262 Danny Thomas Pl, Mail Stop 343, Memphis, TN, 38105, USA.
Email: [email protected]
Search for more papers by this authorMichelle Boals
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorSara Lewis
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorGabriela Gheorghe
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this authorRohith Jesudas
Department of Hematology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA
Search for more papers by this author
REFERENCES
- 1Gong RL, Wu J, Chen TX. Clinical, laboratory, and molecular characteristics and remission status in children with severe congenital and non-congenital neutropenia. Front Pediatr. 2018; 6: 305.
- 2Zeidler C. Congenital neutropenias. Hematology. 2005; 10(Suppl 1): 306-311.
- 3Welte K, Zeidler C, Reiter A, et al. Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood. 1990; 75(5): 1056-1063.
- 4Boxer LA. How to approach neutropenia. Hematology Am Soc Hematol Educ Program. 2012; 2012: 174-182.
- 5Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017; 3:17032.
- 6Rezaei N, Moin M, Pourpak Z, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol. 2007; 27(5): 525-533.
- 7Makaryan V, Zeidler C, Bolyard AA, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015; 22(1): 3-11.
- 8Newburger PE, Pindyck TN, Zhu Z, et al. Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. Pediatr Blood Cancer. 2010; 55(2): 314-317.
- 9Dale DC, Bonilla MA, Davis MW, et al. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood. 1993; 81(10): 2496-2502.
- 10Pietsch T, Bührer C, Mempel K, et al. Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. Blood. 1991; 77(6): 1234-1237.
