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

Cristina Cifaldi, Alessia Scarselli, Davide Petricone, Silvia Di Cesare, Maria Chiriaco, Alessia Claps, Paolo Rossi, Enrica Calzoni, Yasuhiro Yamazaki, Luigi Daniele Notarangelo, Gigliola Di Matteo, Caterina Cancrini, Andrea Finocchi

Research output: Contribution to journalLetterpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)121-123
Number of pages3
JournalClinical Immunology
Volume173
DOIs
Publication statusPublished - Dec 1 2016

Keywords

  • EBV viremia
  • Humoral defect
  • Hypomorphic mutation
  • RAG1

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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