title: [Diagnosis and treatment procedures of congenital neutropenia].
abstract: To explore the reasonable procedures and strategies of diagnosis and treatment of congenital neutropenia (CN), clinical data and laboratory examination results of a boy suspected of CN were collected; gene ELA2, GFI1, HAX1, and WASp of whom were sequenced, granulocyte colony-stimulating factor receptor (G-CSFR) expression on neutrophil was analyzed, and cytoplasmic domain of G-CSFR was sequenced. The results showed that the diagnosis of non-syndromic variants of CN (NSVCN) was made on this patient according to the criteria; sequencing results revealed no mutation occurred in ELA2, GFI1, HAX1 and WASp; a normal expression level of G-CSFR on neutrophil from this patient was detected and no truncated mutation was found in the intracellular domain of G-CSFR. It is concluded that reasonable procedure of diagnosis and treatment of CN is established, and a sporadic NSVCN with no recognized pathogenic mutation is confirmed in this patient.
authors.affiliation: The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, China.
authors.forename: Man
authors.initials: M
authors.lastname: Qiao
authors.forename: Sheng-Li
authors.initials: SL
authors.lastname: Xue
authors.forename: Jing-Ying
authors.initials: JY
authors.lastname: Zou
authors.forename: Lan
authors.initials: L
authors.lastname: Dai
authors.forename: Hui-Wen
authors.initials: HW
authors.lastname: Liu
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Ai-Ning
authors.initials: AN
authors.lastname: Sun
authors.forename: De-Pei
authors.initials: DP
authors.lastname: Wu
mesh_terms: D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000378:metabolism
chemical_list: D016188:Receptors, Granulocyte Colony-Stimulating Factor