Fiche publication
Date publication
novembre 2024
Journal
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak
,
Dr CARAPITO Raphaël
Tous les auteurs :
Tajik S, Fazlollahi MR, Alizadeh Z, Badalzadeh M, Houshmand M, Razaghian A, Bahram S, Molitor A, Carapito R, Shariat M, Hamidieh AA, Behniafard N, Abdolkarimi B, Rostami T, Moin M, Pourpak Z
Lien Pubmed
Résumé
Primary immunodeficiency diseases (inborn errors of immunity) with partial albinism are a group of autosomal recessive syndromes including Chediak Higashi Syndrome (CHS), Griscelli Syndrome type 2 (GS2), Hermansky-Pudlak Syndromes type 2 and 10 (HPS2, HPS10), Vici syndrome and P14/LAMTOR2 deficiency.
Mots clés
Chediak higashi syndrome, Griscelli syndrome type 2, Hermanskey pudlak syndrome type 2, novel causal variants, partial albinism, primary immunodeficiency diseases
Référence
Pediatr Allergy Immunol. 2024 11;35(11):e14264
