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- W2005703399 abstract "Hyper-IgM syndrome (HIM) is a rare immunodeficiency disorder that has been associated with the development of symptoms and clinical features characteristic of rheumatoid arthritis (RA). We describe a patient with HIM and severe erosive arthritis with prominent nodules in the absence of detectable serum rheumatoid factor. Because HIM results from defects in either T cell CD154 (CD40 ligand) expression or abnormal CD40 signaling, the molecular basis of the patient's disease was analyzed. Activated CD4+ T cells failed to express surface CD154 protein, and molecular analysis of CD154 complementary DNA revealed a nucleotide transversion resulting in the nonconservative amino acid substitution G-D at amino acid 257. This case indicates that defective CD154-dependent CD40 signaling can be associated with susceptibility to a severe inflammatory arthritis that has both similarities to and differences from idiopathic RA." @default.
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- W2005703399 date "1999-06-01" @default.
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- W2005703399 title "An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome)" @default.
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- W2005703399 doi "https://doi.org/10.1002/1529-0131(199906)42:6<1291::aid-anr29>3.0.co;2-#" @default.
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