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Comprehensive review of autoantibodies in patients with hyper-IgM syndrome

Cellular & Molecular Immunology 2018年第6期15卷 610-617页

作者： Mohamed-Ridha Barbouche Qubo Chen Marco carbone Imen Ben-Mustapha Zakera Shums Mehdi trifa Federica Malinverno Francesca Bernuzzi Haiyan Zhang Nourhen Agrebi Gary L Norman Christopher Chang M Eric Gershwin Pietro Invernizzi Laboratory of Immunology Institute Pasteur de Tunis and Faculty of MedicineUniversity Tunis El Manar1002 TunisTunisia Humanitas Clinical and Research Center 20089 RozzanoItaly Clinical Laboratory Guangdong Provincial Hospital of Chinese medicine510000 GuangzhouChina Division of Gastroenterology and Center for Autoimmune Liver Diseases Department of Medicine and SurgeryUniversity of Milan-Bicocca20900 Monza(MB)Italy Department of Research and Development Inova Diagnostics92131 San DiegoCAUSA Department of Anesthesia and Intensive care Children Hospital Bechir HamzaTunis and Faculty of MedicineUniversity Tunis El Manar1007 TunisTunisia Division of Gastroenterology and Hepatology Key Laboratory of Gastroenterology and HepatologyMinistry of HealthStateKey Laboratory for Oncogenes and Related GenesRenji HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai Institute of Digestive Disease200001 ShanghaiChina Division of Rheumatology Allergy and Clinical ImmunologyUniversity of California at Davis95616 DavisCAUSA

Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand *** CD40 ligand has been recently highlighted as playing a key role in the pathogenesis of primary biliary *** the present study,we assessed an extensive set of serum autoantibodies in a series of well-defined patients with hyper-immunoglobulin M ***,liver-related and liver-not-related autoantibodies IgG,IgM and IgA were tested by ELISA and standard indirect immunofluorescence in HEp-2 cells in 13 Tunisian patients(8 males and 5 females,aged 1–12 years)with hyper-immunoglobulin M syndrome during 1995–2012 and,as controls,21 age-and gender-matched blood *** 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(Po0.0001).Twenty-three percent of patients were found to be anti-sp100 antibody positive vs only 0.05%of *** immunofluorescence,92.3%of patients were MIT3 IgM positive vs none of the *** conclusion,the IgM class of anti-MIT3 antibodies was shown to be present by both ELISA and immunofluorescence in most of the patients with hyper-immunoglobulin M *** presence of the hallmark of primary biliary cholangitis,a disease where the CD40 ligand is a key player,in an immunodeficiency disease caused by mutations in the CD40 ligand gene is very intriguing and opens new scenarios in understanding the immune pathogenesis of primary biliary cholangitis.

关键词： immunoglobulin M autoantibodies immunodeficiency hyper-immunoglobulin M syndrome primary biliary cholangitis

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