The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans

Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene polymorphisms are associated with many autoimmune diseases. The major risk allele encodes an R620W amino acid change that alters B cell receptor (BCR) signaling involved in the regulation of central B cell tolerance. To assess whether th...

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Veröffentlicht in:	The Journal of clinical investigation 2011-09, Vol.121 (9), p.3635-3644
Hauptverfasser:	Menard, Laurence, Saadoun, David, Isnardi, Isabelle, Ng, Yen-Shing, Meyers, Greta, Massad, Christopher, Price, Christina, Abraham, Clara, Motaghedi, Roja, Buckner, Jane H, Gregersen, Peter K, Meffre, Eric
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Allelomorphism Antibodies Antigens Autoantibodies - immunology Autoimmune diseases Autoimmune Diseases - genetics Autoimmune Diseases - immunology Autoimmunity - immunology B cells B-Lymphocytes - cytology B-Lymphocytes - immunology Biomedical research Bone marrow Cloning Genes Genetic aspects Genetic code Genetic Predisposition to Disease Genetic variation Humans Identification and classification Isoenzymes - genetics Isoenzymes - metabolism Phosphatase Polymorphism, Single Nucleotide Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics Protein Tyrosine Phosphatase, Non-Receptor Type 22 - metabolism Proteins Risk Factors Self Tolerance - genetics Self Tolerance - immunology T cell receptors
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