Titre:
  • Homozygous DBF4 mutation as a cause of severe congenital neutropenia
Auteur:Willemsen, Mathijs; Barber, John J.S.; Van Nieuwenhove, Erika; Staels, Frederik; Gerbaux, Margaux; Neumann, Julika; Prezzemolo, Teresa; Pasciuto, Emanuela; Lagou, Vasiliki; Boeckx, Nancy; Filtjens, Jessica; De Visscher, Amber; Matthys, Patrick; Schrijvers, Rik; Tousseyn, Thomas; O'Driscoll, Mark; Bucciol, Giorgia; Schlenner, Susan; Meyts, Isabelle; Humblet-Baron, Stéphanie; Liston, Adrian
Informations sur la publication:Journal of allergy and clinical immunology, 152, 1, page (266-277)
Statut de publication:Publié, 2023-07
Sujet CREF:Immunologie
Allergie et immunopathologie
Mots-clés:DBF4
DNA replication
facial dysmorphism
genetics
inborn errors of immunity
mutation
neutropenia
perturbed growth
primary immunodeficiency
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0091-6749
info:doi/10.1016/j.jaci.2023.02.016
info:pii/S0091674923002300
info:scp/85150757691
info:pmid/36841265