Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene. The CD40 ligand 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 M syndrome. Serum, 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 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 immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome. The 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.

Barbouche, M., Chen, Q., Carbone, M., Ben-Mustapha, I., Shums, Z., Trifa, M., et al. (2018). Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. CELLULAR & MOLECULAR IMMUNOLOGY, 15(6), 610-617 [10.1038/cmi.2017.140].

Comprehensive review of autoantibodies in patients with hyper-IgM syndrome

Carbone, Marco;Malinverno, Federica;Bernuzzi, Francesca;Invernizzi, Pietro
2018

Abstract

Hyper-immunoglobulin M syndrome is an X-linked primary immunodeficiency disease caused by mutations in the CD40 ligand gene. The CD40 ligand 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 M syndrome. Serum, 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 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 immunofluorescence in most of the patients with hyper-immunoglobulin M syndrome. The 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.
Articolo in rivista - Articolo scientifico
immunoglobulin M; autoantibodies; immunodeficiency; hyper-immunoglobulin M syndrome; primary biliary cholangitis; Immunology and Allergy; Immunology; Infectious Diseases;
English
610
617
8
Barbouche, M., Chen, Q., Carbone, M., Ben-Mustapha, I., Shums, Z., Trifa, M., et al. (2018). Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. CELLULAR & MOLECULAR IMMUNOLOGY, 15(6), 610-617 [10.1038/cmi.2017.140].
Barbouche, M; Chen, Q; Carbone, M; Ben-Mustapha, I; Shums, Z; Trifa, M; Malinverno, F; Bernuzzi, F; Zhang, H; Agrebi, N; Norman, G; Chang, C; Gershwin, M; Invernizzi, P
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/302406
Citazioni
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 4
Social impact