HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient

Aydoğmuş C., Çipe F., TAS M., AKINEL A., Öner O., Keskindemirci G., ...More

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, vol.34, no.1, pp.73-76, 2016 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 34 Issue: 1
  • Publication Date: 2016
  • Doi Number: 10.12932/ap0618.34.1.2016
  • Journal Name: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.73-76
  • Keywords: Severe congenital neutropenia, diagnosis, mutation, HAX-1, ELANE, SEVERE CONGENITAL NEUTROPENIA, MUTATIONS, LEUKEMIA, ELASTASE, ELA2, ABNORMALITIES, DISEASE, G6PC3
  • Istanbul University Affiliated: No

Abstract

Background: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life.