Comprehensive review of autoantibodies in patients with hyper-IgM syndrome

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

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)610-617
Number of pages8
JournalCellular and Molecular Immunology
Volume15
Issue number6
DOIs
StatePublished - Jun 1 2018

Fingerprint

Hyper-IgM Immunodeficiency Syndrome
Autoantibodies
Immunoglobulin M
CD40 Ligand
Cholangitis
Fluorescent Antibody Technique
Anti-Idiotypic Antibodies
X-Linked Combined Immunodeficiency Diseases
Enzyme-Linked Immunosorbent Assay
Mutation
Liver
Indirect Fluorescent Antibody Technique
Blood Donors
Serum
Immunoglobulin A
Genes
Immunoglobulin G
Light Fixation Seizure Syndrome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Infectious Diseases

Cite this

Barbouche, M. R., Chen, Q., Carbone, M., Ben-Mustapha, I., Shums, Z., Trifa, M., ... Invernizzi, P. (2018). Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. Cellular and Molecular Immunology, 15(6), 610-617. https://doi.org/10.1038/cmi.2017.140

Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. / Barbouche, Mohamed Ridha; Chen, Qubo; Carbone, Marco; Ben-Mustapha, Imen; Shums, Zakera; Trifa, Mehdi; Malinverno, Federica; Bernuzzi, Francesca; Zhang, Haiyan; Agrebi, Nourhen; Norman, Gary L.; Chang, Christopher; Gershwin, M. Eric; Invernizzi, Pietro.

In: Cellular and Molecular Immunology, Vol. 15, No. 6, 01.06.2018, p. 610-617.

Research output: Contribution to journalArticle

Barbouche, MR, Chen, Q, Carbone, M, Ben-Mustapha, I, Shums, Z, Trifa, M, Malinverno, F, Bernuzzi, F, Zhang, H, Agrebi, N, Norman, GL, Chang, C, Gershwin, ME & Invernizzi, P 2018, 'Comprehensive review of autoantibodies in patients with hyper-IgM syndrome', Cellular and Molecular Immunology, vol. 15, no. 6, pp. 610-617. https://doi.org/10.1038/cmi.2017.140
Barbouche MR, Chen Q, Carbone M, Ben-Mustapha I, Shums Z, Trifa M et al. Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. Cellular and Molecular Immunology. 2018 Jun 1;15(6):610-617. https://doi.org/10.1038/cmi.2017.140
Barbouche, Mohamed Ridha ; Chen, Qubo ; Carbone, Marco ; Ben-Mustapha, Imen ; Shums, Zakera ; Trifa, Mehdi ; Malinverno, Federica ; Bernuzzi, Francesca ; Zhang, Haiyan ; Agrebi, Nourhen ; Norman, Gary L. ; Chang, Christopher ; Gershwin, M. Eric ; Invernizzi, Pietro. / Comprehensive review of autoantibodies in patients with hyper-IgM syndrome. In: Cellular and Molecular Immunology. 2018 ; Vol. 15, No. 6. pp. 610-617.
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