Rare autoimmune disorders with Mendelian inheritance

Mark Plander, B. Kálmán

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Autoimmune diseases represent a heterogeneous group of common disorders defined by complex trait genetics and environmental effects. The genetic variants usually align in immune and metabolic pathways that affect cell survival or apoptosis and modulate leukocyte function. Nevertheless, the exact triggers of disease development remain poorly understood and the current therapeutic interventions only modify the disease course. Both the prevention and the cure of autoimmune disorders are beyond our present medical capabilities. In contrast, a growing number of single gene autoimmune disorders have also been identified and characterized in the last few decades. Mutations and other gene alterations exert significant effects in these conditions, and often affect genes involved in central or peripheral immunologic tolerance induction. Even though a single genetic abnormality may be the disease trigger, it usually upsets a number of interactions among immune cells, and the biological developments of these monogenic disorders are also complex. Nevertheless, identification of the triggering molecular abnormalities greatly contributes to our understanding of the pathogenesis of autoimmunity and facilitates the development of newer and more effective treatment strategies.

Original languageEnglish
Pages (from-to)1-13
Number of pages13
JournalAutoimmunity
DOIs
Publication statusAccepted/In press - May 16 2016

Fingerprint

Peripheral Tolerance
Genes
Metabolic Networks and Pathways
Autoimmunity
Autoimmune Diseases
Cell Survival
Leukocytes
Apoptosis
Mutation
Therapeutics

Keywords

  • Autoimmune disorders
  • genetics
  • pathogenesis
  • rare disorders
  • tolerance

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Rare autoimmune disorders with Mendelian inheritance. / Plander, Mark; Kálmán, B.

In: Autoimmunity, 16.05.2016, p. 1-13.

Research output: Contribution to journalArticle

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