Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia

Wen I. Lee*, Shih Hsiang Chen, Jing Long Huang, Tang Her Jaing, Hung Tao Chung, Kuo Wei Yeh, Li Chen Chen, Tsung Chieh Yao, Meng Ying Hsieh, Syh Jae Lin, Ming Ling Kuo

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

4 Scopus citations

Abstract

To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm3 over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12±2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. In 30 patients, detectable anti-neutrophil auto-antibodies were HNA1a in 16 patients, HNA1c in 15, MHC Class I in 14, HNA1b in eight, MHC Class II in five, and HNA2a in three. Their average neutropenia duration was 27.04±2.08 months. Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis. The patient with nonsense ELANE mutation [Cys223stop] had the lowest NE activity (16.8). Thus, patients with ELANE mutations have undetectable antibodies and more severe and younger-onset muco-cutaneous infections, prolonged healing and decreased serum NE activity that require prompt intervention.

Original languageEnglish
Pages (from-to)828-833
Number of pages6
JournalImmunobiology
Volume218
Issue number5
DOIs
StatePublished - 05 2013

Keywords

  • Autoimmune neutropenia
  • HAX1
  • Kostmann disease
  • Neutrophil elastase (ELANE)
  • Neutrophil elastase (NE) activity
  • Severe congenital neutropenia

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