The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant

    July 2014 in “ Gene
    Emanuele Bellacchio, Alessandro Palma, S Corrente, Francesco Girolamo, E. Helen Kemp, Gigliola Di Matteo, Laura Comelli, Rita Carsetti, Simona Cascioli, Caterina Cancrini, Alessandra Fierabracci
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    Studysummary This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
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