Affordable Access

Publisher Website

Immunodeficiencies with Autoimmune Consequences

Elsevier Science & Technology
DOI: 10.1016/s0065-2776(05)89008-x
  • Medicine


Abstract Far from being mutually exclusive, immunodeficiency and autoimmunity may occur simultaneously. During the last years, analysis of Autoimmune Polyendocrinopathy – Candidiasis – Ectodermal Dystrophy (APECED) and Immunodysregulation – Polyendocrinopathy – Enteropathy – X‐linked (IPEX), two rare monogenic forms of immunodeficiency associated with autoimmunity, has led to the identification of Auto Immune Regulator (AIRE) and Forkhead Box P3 (FOXP3), essential transcriptional regulators, involved in central tolerance and peripheral immune homeostasis, respectively. Characterization of the molecular and cellular mechanisms involved in APECED, and recognition that AIRE expression is sustained by effective thymopoiesis, has recently allowed to define that the autoimmunity of Omenn syndrome, a combined immunodeficiency due to defects of V(D)J recombination, also results from defective expression of AIRE. The implications of identification of the basis of autoimmunity in these rare forms of immunodeficiency have important implications for a better understanding of more common autoimmune disorders, and for development of novel therapeutic approaches.

There are no comments yet on this publication. Be the first to share your thoughts.


Seen <100 times

More articles like this

Immunodeficiencies with autoimmune consequences.

on Cell Biology of the B Cell Rec... 2006

[Autoimmune oophoritis and its consequences].

on Nihon rinsho. Japanese journal... Dec 10, 1976

HLA class II antigens: structure, function, and ex...

on Advances in nephrology from th... 1989
More articles like this..