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 journalLetter

6 Citations (Scopus)

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

Fingerprint

Agammaglobulinemia
Nose
Mutation
RAG-1 Genes
Genes
Common Variable Immunodeficiency
Phenotype
Severe Combined Immunodeficiency
Genetic Recombination
B-Lymphocytes
Parents
Proteins

Keywords

  • EBV viremia
  • Humoral defect
  • Hypomorphic mutation
  • RAG1

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. / Cifaldi, Cristina; 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.

In: Clinical Immunology, Vol. 173, 01.12.2016, p. 121-123.

Research output: Contribution to journalLetter

Cifaldi, Cristina ; 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. / Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy. In: Clinical Immunology. 2016 ; Vol. 173. pp. 121-123.
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AU - Scarselli, Alessia

AU - Petricone, Davide

AU - Di Cesare, Silvia

AU - Chiriaco, Maria

AU - Claps, Alessia

AU - Rossi, Paolo

AU - Calzoni, Enrica

AU - Yamazaki, Yasuhiro

AU - Notarangelo, Luigi Daniele

AU - Di Matteo, Gigliola

AU - Cancrini, Caterina

AU - Finocchi, Andrea

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AB - 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.

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