Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 173(2016) vom: 30. Dez., Seite 121-123
1. Verfasser:	Cifaldi, Cristina (VerfasserIn)
Weitere Verfasser:	Scarselli, Alessia, Petricone, Davide, Di Cesare, Silvia, Chiriaco, Maria, Claps, Alessia, Rossi, Paolo, Calzoni, Enrica, Yamazaki, Yasuhiro, Notarangelo, Luigi Daniele, Di Matteo, Gigliola, Cancrini, Caterina, Finocchi, Andrea
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2016
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Letter EBV viremia Humoral defect Hypomorphic mutation RAG1 Homeodomain Proteins RAG-1 protein 128559-51-3

Beschreibung
Zusammenfassung:	Copyright Â© 2016 Elsevier Inc. All rights reserved. Recombination-activating gene (RAG) 1 and 2 mutations in humans cause T- B- NK+ SCID and Omenn syndrome, but milder phenotypes associated with residual protein activity have been recently described. We report a male patient with a diagnosis of common variable immunodeficiency (CVID) born from non-consanguineous parents, whose immunological phenotype was characterized by severe reduction of B cells and agammaglobulinemia for which several candidate genes were excluded by targeted Sanger sequencing. Next Generation Sequencing revealed two compound heterozygous mutations in the RAG1 gene: the previously described p.R624H, and the novel p.Y728H mutation, as well as the known polymorphism p.H249R. This case reinforces the notion of large phenotypic spectrum in RAG deficiency and opens questions on the management and follow-up of these patients
Beschreibung:	Date Completed 31.05.2017 Date Revised 31.05.2017 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2016.09.013