Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations

Journal of Pediatric Infectious Diseases

Volumn 34, Issue 2, 2015, Pages 203-207

  Shu, Zhou ^a   Li, Xiao Hui ^a   Bai, Xiao Ming ^a   Zhang, Zhi Yong ^a   Jiang, Li Ping ^a   Tang, Xue Mei ^a   Zhao, Xiao Dong ^a  

^a CHILDREN S HOSPITAL OF CHONGQING MEDICAL UNIVERSITY   (China)

Author keywords

Cyclic neutropenia; ELANE gene; Granulocyte colony stimulating factor; Neutrophil elastase; Severe songenital neutropenia

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; GRANULOCYTE COLONY STIMULATING FACTOR; LEUKOCYTE ELASTASE; MUTANT PROTEIN;

ANEMIA; ARTICLE; BONE MARROW; CHILD; CLINICAL FEATURE; FEMALE; GENE MUTATION; HUMAN; INFANT; MALE; NEUTROPHIL COUNT; OSTEOPENIA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DNA SEQUENCE; GENETICS; METABOLISM; MUTATION; NEUTROPENIA; PATHOLOGY;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; CHINA; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; INFANT; LEUKOCYTE ELASTASE; MALE; MUTANT PROTEINS; MUTATION; NEUTROPENIA; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84925442297     PISSN: 13057707     EISSN: 13057693     Source Type: Journal    
DOI: 10.1097/INF.0000000000000522     Document Type: Article

References (28)

1. Horwitz MS, Corey SJ, Grimes HL, et al. ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol Oncol Clin North Am. 2013;27:19-41.
2. Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45(suppl 105):1-78.
3. Kostman R. Infantile genetic agranulocytosis. A review with presentation of ten new cases. Acta Paediatr Scand. 1975;64:362-368.
4. Zeidler C, Germeshausen M, Klein C, et al. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol. 2009;144: 459-467.
5. Donadieu J, Beaupain B, Mahlaoui N, et al. Epidemiology of congenital neutropenia. Hematol Oncol Clin North Am. 2013;27:1-17.
6. Horwitz M, Benson KF, Person RE, et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433-436.
7. Dingli D, Antal T, Traulsen A, et al. Progenitor cell self-renewal and cyclic neutropenia. Cell Prolif. 2009;42:330-338.
8. Ancliff PJ, Gale RE, Liesner R, et al. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood. 2001;98:2645-2650.
9. Xia J, Bolyard AA, Rodger E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009;147:535-542.
10. Bellanne-Chantelot C, Clauin S, Leblanc T, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood. 2004;103:4119-4125.
11. Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140:210-213.
12. Rosenberg PS, Zeidler C, Bolyard AA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol. 2010;150:196-199.
13. Fioredda F, Calvillo M, Bonanomi S, et al. Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica). Pediatr Blood Cancer. 2011;57:10-17.
14. Dale 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;81:2496-2502.
15. Welte K, Zeidler C. Severe congenital neutropenia. Hematol Oncol Clin North Am. 2009;23:307-320.
16. Dale DC, Cottle TE, Fier CJ, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. 2003;72:82-93.
17. Lehrnbecher T, Welte K. Haematopoietic growth factors in children with neutropenia. Br J Haematol. 2002;116:28-56.
18. Zeidler C, Boxer L, Dale DC, et al. Management of Kostmann syndrome in the G-CSF era. Br J Haematol. 2000;109:490-495.
19. Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317-2322.
20. Grann VR, Ziv E, Joseph CK, et al. Duffy (Fy), DARC, and neutropenia among women from the United States, Europe and the Caribbean. Br J Haematol. 2008;143:288-293.
21. Gullberg U, Bengtsson N, Bulow E, et al. Processing and targeting of granule proteins in human neutrophils. J Immunol Methods. 1999;232:201-210.
22. Adkison AM, Raptis SZ, Kelley DG, et al. Dipeptidyl peptidase I activates neutrophil-derived serine proteases and regulates the development of acute experimental arthritis. J Clin Invest. 2002;109:363-371.
23. Tidwell T, Wechsler J, Nayak RC, et al. Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. Blood. 2014;123:562-569.
24. Newburger 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;55:314-317.
25. Ancliff PJ, Gale RE, Watts MJ, et al. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. Blood. 2002;100:707-709.
26. Sinha S, Zhu QS, Romero G, et al. Deletional mutation of the external domain of the human granulocyte colony-stimulating factor receptor in a patient with severe chronic neutropenia refractory to granulocyte colony-stimulating factor. J Pediatr Hematol Oncol. 2003;25:791-796.
27. Donadieu J, Leblanc T, Bader Meunier B, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica. 2005;90:45-53.
28. Klein C. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol. 2011;29:399-413.