Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Lorenzini T., Fliegauf M., Klammer N., Frede N., Proietti M., Bulashevska A., ...Daha Fazla

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.146, sa.4, ss.901-911, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 146 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.jaci.2019.11.051
  • Dergi Adı: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, International Pharmaceutical Abstracts, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.901-911
  • Anahtar Kelimeler: NFKB1 variant, NFKB1 mutation, common variable immunodeficiency, reduced penetrance, NF-kappa B1-related phenotype, autosomal dominant, NF-KAPPA-B, NUCLEAR-FACTOR, NF-KAPPA-B1, HAPLOINSUFFICIENCY, IMMUNODEFICIENCY, CELLS
  • Marmara Üniversitesi Adresli: Evet

Özet

Background: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes.