Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Fiche publication
Date publication
juillet 2023
Journal
Genes and immunity
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr CARAPITO Raphaël
Tous les auteurs :
Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, de Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z
Lien Pubmed
Résumé
Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune system associated with life-threatening infections. Variations in SCID phenotypes, especially atypical SCID, may cause a significant delay in diagnosis. Therefore, SCID patients need to receive an early diagnosis. Here, we describe the clinical manifestations and genetic results of four SCID and atypical SCID patients. All patients (4 males and 4 females) in early infancy presented with SCID phenotypes within 6 months of birth. The mutations include RAG2 (p.I273T,p.G44X), IL7R (p.F361WfsTer17), ADA (c.780+1G>A), JAK3 (p.Q228Ter), LIG4 (p.G428R), and LAT (p.Y207fsTer33), as well as a previously reported missense mutation in RAG1 (p.A444V). The second report of LAT deficiency in SCID patients is presented in this study. Moreover, all variants were confirmed in patients and their parents as a heterozygous state by Sanger sequencing. The results of our study expand the clinical and molecular spectrum associated with SCID and leaky SCID phenotypes and provide valuable information for the clinical management of the patients.
Référence
Genes Immun. 2023 07 29;: