Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5654972 | Clinical Immunology | 2016 | 14 Pages |
Abstract
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.
Keywords
RAG1HSCTIVIgCVIDSCIDDSBsRag2NHEJTCrPIDNGSV(D)JPBMCDNA double-strand breaksEBVIntravenous immunoglobulinNext-generation sequencingrecombination signal sequencesperipheral blood mononuclear cellsOmenn syndromecytomegalovirusCMVnon-homologous end joiningCVID, common variable immunodeficiencySCID, Severe combined immunodeficiencyEpstein barr virusHematopoietic stem cell transplantationRecombination-activating gene 1recombination-activating gene 2Primary immune deficiencyT cell receptor
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Authors
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 MD, PhD,