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Article

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Journal of clinical immunology - 1 Jan 2022

Cifaldi Cristina, Rivalta Beatrice, Amodio Donato, Mattia Algeri, Pacillo Lucia, Di Cesare Silvia, Chiriaco Maria, Ursu Giorgiana Madalina, Cotugno Nicola, Giancotta Carmela, Manno Emma C, Santilli Veronica, Zangari Paola, Federica Galaverna, Palumbo Giuseppe, Merli Pietro, Palma Paolo, Rossi Paolo, Di Matteo Gigliola, Locatelli Franco, Finocchi Andrea, Cancrini Caterina

Abstract excerpt

PURPOSE: We described clinical, immunological, and molecular characterization within a cohort of 22 RAG patients focused on the possible correlation between clinical and genetic data. METHODS: Immunological and genetic features were investigated by multiparametric flow cytometry and by Sanger or next generation sequencing (NGS) as appropriate. RESULTS: Patients represented a broad spectrum of RAG deficiencies:...

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Genetic Association Studies
Homeodomain Proteins
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Severe Combined Immunodeficiency

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PMID: 34664192
DOI: 10.1007/s10875-021-01130-3
PMCID: PMC8821501

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