Comprehensive review of autoantibodies in patients with hyper-IgM syndrome
2018
Hyper-
immunoglobulin Msyndrome is an X-linked
primary immunodeficiencydisease caused by mutations in the
CD40ligand gene. The
CD40ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary cholangitis. In the present study, we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-
immunoglobulin Msyndrome. Serum, liver-related and liver-not-related autoantibodies IgG, IgM and IgA were tested by ELISA and standard indirect
immunofluorescencein HEp-2 cells in 13 Tunisian patients (8 males and 5 females, aged 1–12 years) with hyper-
immunoglobulin Msyndrome during 1995–2012 and, as controls, 21 age- and gender-matched blood donors. The level of IgM antibody against MIT3 was significantly higher in patients than in controls (35.8 vs 10.7, P=0.002). Half of the hyperimmunoglobulin M syndrome patients were found to be anti-MIT3 IgM positive vs none of the controls (P<0.0001). Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05% of controls. By
immunofluorescence, 92.3% of patients were MIT3 IgM positive vs none of the controls. In conclusion, the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and
immunofluorescencein most of the patients with hyper-
immunoglobulin Msyndrome. The presence of the hallmark of primary biliary cholangitis, a disease where the
CD40ligand is a key player, in an immunodeficiency disease caused by mutations in the
CD40ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis.
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