Work

An aggressive form of polyarticular arthritis in a man with CD154 mutation (X‐linked hyper‐IgM syndrome)

Year: 1999

Type: article

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.

Source: Arthritis & Rheumatism

DOI: 10.1002/1529-0131(199906)42:6<1291::aid-anr29>3.0.co;2-#