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

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• 作者：Cristina Cifaldi^a ; Alessia Scarselli^b ; Davide Petricone^a ; Silvia Di Cesare^b ; Maria Chiriaco^b ; Alessia Claps^b ; Paolo Rossi^a ; ^b ; Enrica Calzoni^c ; Yasuhiro Yamazaki^c ; Luigi Daniele Notarangelo^c ; ^d ; Gigliola Di Matteo^a ; Caterina Cancrini^a ; ^b ; ¹ ; Andrea Finocchi ; MD ; PhD^a ; ^b ; ¹ ; ^{andrea.finocchi@uniroma2.it}
• 关键词：PID ; primary immune deficiency ; SCID ; severe combined immunodeficiency ; CVID ; common variable immunodeficiency ; OS ; Omenn syndrome ; RAG1 ; recombination-activating gene 1 ; RAG2 ; recombination-activating gene 2 ; RSSs ; recombination signal sequences ; DSBs ; DNA double-strand breaks ; NHEJ ; non-homologous end joining ; V(D)J ; variable (V) ; diversity (D) ; and joining (J) ; IVIg ; intravenous immunoglobulin ; NGS ; next-generation sequencing ; TCR ; T cell receptor ; PBMC ; peripheral blood mononuclear cells ; EB
• 刊名：Clinical Immunology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：173
• 期：Complete
• 页码：121-123
• 全文大小：333 K
• 卷排序：173

文摘

Late diagnosis of an atypical RAG1 patient The B-cells are marked decreased. The patient shows agammaglobulinemia, nasal polyposis and persistent EBV viremia. Next-generation sequencing reveals a new RAG1 mutation. The recombinase activity of the novel variant shows reduced, but detectable, functional activity.