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

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

Copyright © 2016 Elsevier Inc. All rights reserved.

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
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520 |a 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 
650 4 |a Case Reports 
650 4 |a Letter 
650 4 |a EBV viremia 
650 4 |a Humoral defect 
650 4 |a Hypomorphic mutation 
650 4 |a RAG1 
650 7 |a Homeodomain Proteins  |2 NLM 
650 7 |a RAG-1 protein  |2 NLM 
650 7 |a 128559-51-3  |2 NLM 
700 1 |a Scarselli, Alessia  |e verfasserin  |4 aut 
700 1 |a Petricone, Davide  |e verfasserin  |4 aut 
700 1 |a Di Cesare, Silvia  |e verfasserin  |4 aut 
700 1 |a Chiriaco, Maria  |e verfasserin  |4 aut 
700 1 |a Claps, Alessia  |e verfasserin  |4 aut 
700 1 |a Rossi, Paolo  |e verfasserin  |4 aut 
700 1 |a Calzoni, Enrica  |e verfasserin  |4 aut 
700 1 |a Yamazaki, Yasuhiro  |e verfasserin  |4 aut 
700 1 |a Notarangelo, Luigi Daniele  |e verfasserin  |4 aut 
700 1 |a Di Matteo, Gigliola  |e verfasserin  |4 aut 
700 1 |a Cancrini, Caterina  |e verfasserin  |4 aut 
700 1 |a Finocchi, Andrea  |e verfasserin  |4 aut 
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