Primary Immune Deficiency Disorders Presenting As Autoimmune Diseases: IPEX and APECED

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2008 Feb 12

PMID 18264745

Citations 44

Authors

D Moraes-Vasconcelos

B T Costa-Carvalho

T R Torgerson

H D Ochs

Affiliations

Soon will be listed here.

Abstract

Background: Several primary immune deficiency disorders are associated with autoimmunity and malignancy, suggesting a state of immune dysregulation. The concept of immune dysregulation as a direct cause of autoimmunity in primary immune deficiency disorders (PIDDs) has been strengthened by the recent discovery of distinct clinical entities linked to single-gene defects resulting in multiple autoimmune phenomena including immune dysregulation, polyendocrinopathy, enteropathy and X-linked (IPEX) syndrome, and autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) syndrome.

Conclusion: Reviewing recent advances in our understanding of the small subgroup of PIDD patients with defined causes for autoimmunity may lead to the development of more effective treatment strategies for idiopathic human autoimmune diseases.

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Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.

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