The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

Masanobu Tsuda, Troy R. Torgerson, Carlo Selmi, Eleonora Gambineri, Magda Carneiro-Sampaio, Sara Ciullini Mannurita, Patrick S Leung, Gary L. Norman, M. Eric Gershwin

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

IPEX syndrome is a congenital disorder of immune regulation caused by mutations in the FOXP3 gene, which is required for the suppressive function of naturally arising CD4 + CD25 + regulatory T cells. In this case series we evaluated serum samples from 12 patients with IPEX syndrome for the presence of common autoantibodies associated with a broad range of autoimmune disorders. We note that 75% of patients (9/12) had 1 or more autoantibodies, an incidence far above the cumulative rate observed in the general population. The range of autoantibodies differed between patients and there was no predominant autoantibody or pattern of autoantibodies present in this cohort. Surprisingly, one patient had high-titer anti-mitochondrial antibodies (AMA) typically associated with primary biliary cirrhosis (PBC) although the patient had no signs of cholestasis. PBC is a well-characterized autoimmune disease that occurs primarily in women and includes the serological hallmarks of serum AMA and elevated IgM which were both present in this patient. PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor α (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. Based on the present data and the available literature we suggest a direct role for CD4 + CD25 + regulatory T cells in restraining B cell autoantibody production and that defects in regulatory T cells may be crucial to the development of PBC.

Original languageEnglish (US)
Pages (from-to)265-268
Number of pages4
JournalJournal of Autoimmunity
Volume35
Issue number3
DOIs
StatePublished - Nov 2010

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Autoantibodies
Biliary Liver Cirrhosis
Regulatory T-Lymphocytes
Anti-Idiotypic Antibodies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Interleukin-2 Receptors
Cholestasis
Serum
Autoimmune Diseases
Immunoglobulin M
B-Lymphocytes
Mutation
Incidence
Population
Genes

Keywords

  • Autoantibodies
  • Autoimmune cholangitis
  • Pediatrics
  • X chromosome

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. / Tsuda, Masanobu; Torgerson, Troy R.; Selmi, Carlo; Gambineri, Eleonora; Carneiro-Sampaio, Magda; Mannurita, Sara Ciullini; Leung, Patrick S; Norman, Gary L.; Gershwin, M. Eric.

In: Journal of Autoimmunity, Vol. 35, No. 3, 11.2010, p. 265-268.

Research output: Contribution to journalArticle

Tsuda, M, Torgerson, TR, Selmi, C, Gambineri, E, Carneiro-Sampaio, M, Mannurita, SC, Leung, PS, Norman, GL & Gershwin, ME 2010, 'The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies', Journal of Autoimmunity, vol. 35, no. 3, pp. 265-268. https://doi.org/10.1016/j.jaut.2010.06.017
Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M, Mannurita SC et al. The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. Journal of Autoimmunity. 2010 Nov;35(3):265-268. https://doi.org/10.1016/j.jaut.2010.06.017
Tsuda, Masanobu ; Torgerson, Troy R. ; Selmi, Carlo ; Gambineri, Eleonora ; Carneiro-Sampaio, Magda ; Mannurita, Sara Ciullini ; Leung, Patrick S ; Norman, Gary L. ; Gershwin, M. Eric. / The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. In: Journal of Autoimmunity. 2010 ; Vol. 35, No. 3. pp. 265-268.
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