Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene

[1] Fioredda F(2011)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 57 10-7

[2] Calvillo M(2011)Congenital neutropenia: diagnosis, molecular basis, and patient management Orphanet J Rare Dis 6 26-22

[3] Bonanomi S(2000)Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Blood 96 2317-42

[4] Coliva T(2009)Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia Br J Haematol 147 535-94

[5] Tucci F(2002)Cyclic neutropenia Semin Hematol 39 89-11

[6] Farruggia P(2015)The diversity of mutations and clinical outcomes for ELANE-associated neutropenia Curr Opin Hematol 22 3-17

[7] Donadieu J(2017)Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Genet Med 19 1105-81

[8] Fenneteau O(2002)Neutropenia: causes and consequences Semin Hematol 39 75-84

[9] Beaupain B(2013)How to approach neutropenia in childhood Pediatr Rev 34 173-53

[10] Mahlaoui N(2017)An update on the diagnosis and treatment of chronic idiopathic neutropenia Curr Opin Hematol 24 46-20

[1] Fioredda F(2011)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 57 10-7

[2] Calvillo M(2011)Congenital neutropenia: diagnosis, molecular basis, and patient management Orphanet J Rare Dis 6 26-22

[3] Bonanomi S(2000)Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Blood 96 2317-42

[4] Coliva T(2009)Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia Br J Haematol 147 535-94

[5] Tucci F(2002)Cyclic neutropenia Semin Hematol 39 89-11

[6] Farruggia P(2015)The diversity of mutations and clinical outcomes for ELANE-associated neutropenia Curr Opin Hematol 22 3-17

[7] Donadieu J(2017)Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria Genet Med 19 1105-81

[8] Fenneteau O(2002)Neutropenia: causes and consequences Semin Hematol 39 75-84

[9] Beaupain B(2013)How to approach neutropenia in childhood Pediatr Rev 34 173-53

[10] Mahlaoui N(2017)An update on the diagnosis and treatment of chronic idiopathic neutropenia Curr Opin Hematol 24 46-20