Send to

Choose Destination
J Pediatr Hematol Oncol. 2018 Nov 30. doi: 10.1097/MPH.0000000000001353. [Epub ahead of print]

Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.

Author information

Departments of Laboratory Medicine and Genetics.
Department of Laboratory Medicine and Genetics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
Department of Hematology, Catholic Hematology Hospital, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul.
Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine.


ELANE-related neutropenia includes severe congenital neutropenia and cyclic neutropenia. Both are clinically characterized by recurrent fever, skin and oropharyngeal inflammation. We report a novel mutation in ELANE in a 20-year-old man with a history of self-limiting febrile episodes and neutropenia with a cyclic pattern since 7 years of age. Direct sequencing analysis of ELANE revealed he was heterozygous for a novel missense mutation (p.Ala57Asp). The Ala57 residue is a mutation hotspot, and all previously reported missense mutations (Ala57Ser/Thr/Val) were observed in severe congenital neutropenia cases. Thus, the present case demonstrates a phenotypic variability in ELANE-related neutropenia from mutated Ala57.

Supplemental Content

Full text links

Icon for Wolters Kluwer
Loading ...
Support Center