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Unmasking Genetic Determinants of Autoinflammatory Disease

Arch Dermatol. 2005;141:242-247.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

In the past 10 years, auto inflammatory diseases have gained recognition as a distinct class of disorders that are characterized by recurrent episodes of systemic inflammation resulting in fevers, leukocyte-mediated tissue infiltration, and dysregulated cytokine production. The recent discovery of genetic determinants of this spectrum of disorders has resulted in new insights into these diseases. Unlike autoimmune diseases, autoinflammatory diseases are marked by the notable absences of autoantibodies or the critical role of self-reactive B and T lymphocytes.

To date, genes involved in 9 autoinflammatory diseases have been identified (Table). These include genes associated with FMF, NOMID, FCAS, MWS, Blau syndrome, Crohn disease, TRAPS, HIDS, and a syndrome marked by PAPA.²¹ Among these diseases, one striking discovery has been the identification of several related genes involved in autoinflammatory diseases that can be grouped into the pyrin gene family based on their nucleotide sequence and predicted protein structure.²² Beginning . . . [Full Text of this Article]

THE PYRIN GENE FAMILY


PYRIN GENE MUTATIONS IDENTIFIED IN HUMAN DISEASE
MEFV

CIAS1

DEFINING THE PYRIN PATHWAY

THE ROLE OF PYRINS IN THE REGULATION OF INFLAMMATORY RESPONSES

CONCLUSIONS

AUTHOR INFORMATION
Kanade Shinkai, MD, PhD; Christine Kilcline, MD; M. Kari Connolly, MD; Ilona J. Frieden, MD

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Neonatal-Onset Multisystem Inflammatory Disorder: The Emerging Role of Pyrin Genes in Autoinflammatory Diseases
Christine Kilcline, Kanade Shinkai, Alanna Bree, Renee Modica, Emily Von Scheven, and Ilona J. Frieden
Arch Dermatol. 2005;141(2):248-253.
ABSTRACT | FULL TEXT  

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