Chapter 12 Autoimmune Polyendocrine Syndromes (APS) or Multiple Autoimmune Syndromes (MAS)

https://doi.org/10.1016/S1571-5078(07)00212-7Get rights and content

Publisher Summary

This chapter discusses the autoimmune polyendocrine syndromes (APS) or multiple autoimmune syndromes (MAS). Neufeld proposed a classification of (APS) based on clinical criteria and identifying four types of APS. The term “APS” is used historically but is not fully appropriate because it indicates not only multiple autoimmune endocrine diseases but also autoimmune endocrine diseases associated with non-endocrine autoimmune diseases and associations between non-endocrine autoimmune diseases. A hypothesis that has been proposed to explain multiple organ involvement in MAS stated that tissues derived from the same germ layer could express common germ-layer–specific antigens that serve as targets for autoimmune responses. The difficulty in understanding the pathogenesis of MAS is related to the fact that animal models that develop spontaneous autoimmunity generally express potential MAS, in which autoimmunity is limited to detection of circulating auto-antibodies.

Section snippets

Historical considerations in autoimmune disorders of the endocrine glands

The origin of endocrine autoimmunity goes back to 1956, when it was found that patients with chronic thyroiditis had autoantibodies against thyroglobulin (Roitt et al., 1956), those with Graves’ disease had a factor stimulating the thyroid gland (Adams and Purves, 1956) and chronic thyroiditis could be produced in animals by immunization with homogenates of autologous tissue (Rose and Witebsky, 1956). It was first shown in 1957 that patients with “idiopathic” Addison's disease (AD) had

Autoimmune polyendocrine syndromes or multiple autoimmune syndromes

In 1980, Neufeld proposed a classification of autoimmune polyendocrine syndrome (APS) based on clinical criteria and identifying four types of APS (Table 2) (Neufeld and Blizzard, 1980). Following the publication of Neufeld's criteria, a large body of new data has been acquired in the field of autoimmune diseases, and for this reason we believe that the proposed classification needs some modifications.

The term APS is used historically but is not fully appropriate because it indicates not only

Conclusions

In recent years, the study of MAS has received great interest thanks to the growing number of the diseases recognized as autoimmune and the knowledge of their natural history. Clinically overt disorders are considered only the tip of the autoimmune iceberg, since latent forms are much more frequent (Fig. 1). Autoantibody determination in patients with a single disease undoubtedly facilitates the recognition of those with the autoimmune form, but in patients with one autoimmune disease the

Acknowledgments

This work was partially supported by FP6 EURAPS project: autoimmune polyendocrine syndrome type I—a rare disorder of childhood as a model for autoimmunity. Contract no. LSHM-CT-2005-005223.

References (94)

  • H. Ikegami

    Animal models of autoimmune polyglandular syndrome

    Endocrinol. Metab. Clin. North Am.

    (2002)
  • J.D. McIntyre Gass

    The syndrome of keratokonjunctivitis superficial moniliasis idiopathic hypoparathyroidism and Addison's disease

    Am. J. Ophthalmol.

    (1962)
  • J. Partanen et al.

    Major histocompatibility complex class II and III in Addison's disease

    Hum. Immunol.

    (1994)
  • S.H. Pearce et al.

    A common and recurrent 13-bp deletion in the autoimmune regulator gene in British Kindreds with autoimmune polyendocrinopathy type 1

    Am. J. Genet.

    (1998)
  • P. Peterson et al.

    APECED: a monogenic autoimmune disease providing new clues to self-tolerance

    Immunol. Today

    (1998)
  • J. Pitkänen et al.

    The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

    Am. Soc. Biochem. Mol. Biol.

    (2000)
  • N. Pontynen et al.

    AIRE deficient mice do not develop the same profile of tissue-specific autoantibodies as APECED patients

    J. Autoimmun.

    (2006)
  • I.M. Roitt et al.

    Autoantibodies in Hashimoto's disease

    Lancet

    (1956)
  • D.A. Schatz et al.

    Autoimmune polyglandular syndrome type II: clinical syndrome and treatment

    Endocrinol. Metab. Clin. North Am.

    (2002)
  • B. Tadmor et al.

    Embryonal germ-layer antigens: target for autoimmunity

    Lancet

    (1992)
  • D.D. Adams et al.

    Abnormal responses in the assay of thyrotropin

    Proc. Univ. Otago Med. School

    (1956)
  • Addison, T. 1937. Physician to Guy's Hospital. London: New Sydenham Society 1868. Reprinted in Medical Classics; 2,...
  • P. Ahonen et al.

    Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients

    N. Engl. J. Med.

    (1990)
  • H. Asamoto et al.

    Histological and immunological changes in the thymus and other organs in NOD mice

  • K. Badenhoop et al.

    Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and DQB1 are shared in endocrine autoimmune disease

    J. Clin. Endocrinol. Metab.

    (1995)
  • W.N. Bartolomaeus et al.

    Multiple autoantibodies following cytomegalovirus infection: virus distribution and specificity of autoantibodies

    Immunology

    (1988)
  • C. Betterle et al.

    Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction

    Endocr. Rev.

    (2002)
  • C. Betterle et al.

    Clinical review: autoimmune polyglandular disease type 1

    J. Clin. Endocrinol. Metab.

    (1998)
  • C. Betterle et al.

    Autoimmune polyglandular syndrome type 2: the tip of an iceberg?

    Clin. Exp. Immunol.

    (2004)
  • C. Betterle et al.

    Autoantibodies to adrenal, gonadal tissues and steroidogenic enzymes

  • B.O. Böehm et al.

    The HLA-DQb non-Asp-57 allele: a predictor of future insulin-dependent diabetes mellitus in patients with autoimmune Addison's disease

    Tissue Antigens

    (1991)
  • C.C.J. Carpenter et al.

    Schmidt's syndrome (thyroid and adrenal insufficiency): a review of the literature and a report of fifteen new cases including ten instances of co-existent diabetes mellitus

    Medicine

    (1964)
  • Q.Y. Chen et al.

    The autoimmune polyglandular syndromes

  • M.G. Clemente et al.

    Cytochrome P450 IA2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1

    J. Clin. Endocrinol. Metab.

    (1997)
  • G. Coco et al.

    Estimated risk for developing autoimmune Addison's disease in patients with adrenal cortex autoantibodies

    J. Clin. Endocrinol. Metab.

    (2006)
  • S.M. Collins et al.

    Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

    Clin. Lab. Invest.

    (2006)
  • C.M. Dayan et al.

    Chronic autoimmune thyroiditis

    N. Engl. J. Med.

    (1996)
  • M. Dominguez et al.

    Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population

    J. Pediatr. Endocrinol. Metab.

    (2006)
  • H. Donner et al.

    Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 in Hashimoto's thyroiditis and Addison's disease

    J. Clin. Endocrinol. Metab.

    (1997)
  • Galavas, N.G., Kemp, E.H., Krohn, K.J.E., Brown, E.M., Watson, P.F., Weetman, A. 2007. The calcium-sensing receptor is...
  • G. Gambelunghe et al.

    Microsatellite polymorphism of the MHC Class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease

    J. Clin. Endocrinol. Metab.

    (1999)
  • M. Gylling et al.

    Beta-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

    J. Clin. Endocrinol. Metab.

    (2000)
  • H. Hashimoto

    Zur kenntnis der lymphomatosen veranderung der schilddruse (struma lymphomatosa)

    Acta Klin. Chir.

    (1912)
  • M. Heino et al.

    APECED mutations in the autoimmune regulator (AIRE) gene

    Hum. Mutat.

    (2001)
  • M. Heino et al.

    Mutation analyses of North American APS-1 patients

    Hum. Mutat.

    (1999)
  • K.C. Hertz et al.

    Autoimmune vitiligo. Detection of antibodies to melanin-producing cells

    N. Engl. J. Med.

    (1977)
  • A. Hoek et al.

    Premature ovarian failure and ovarian autoimmunity

    Endocr. Rev.

    (1997)
  • Cited by (0)

    View full text