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

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

ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, cilt.34, sa.1, ss.73-76, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 1
  • Basım Tarihi: 2016
  • Doi Numarası: 10.12932/ap0618.34.1.2016
  • Dergi Adı: ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.73-76
  • Anahtar Kelimeler: Severe congenital neutropenia, diagnosis, mutation, HAX-1, ELANE, SEVERE CONGENITAL NEUTROPENIA, MUTATIONS, LEUKEMIA, ELASTASE, ELA2, ABNORMALITIES, DISEASE, G6PC3
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.