The systemic autoinflammatory diseases: inborn errors of the innate immune system.
Curr Top Microbiol Immunol
; 305: 127-60, 2006.
Article
en En
| MEDLINE
| ID: mdl-16724804
ABSTRACT
The autoinflammatory syndromes are a newly recognized group of immune disorders that lack the high titers of self-reactive antibodies and T cells characteristic of classic autoimmune disease. Nevertheless, patients with these illnesses experience unprovoked inflammatory disease in the absence of underlying infection. Here we discuss recent advances in eight Mendelian autoinflammatory diseases. The causative genes and the proteins they encode play a critical role in the regulation of innate immunity. Both pyrin and cryopyrin, the proteins mutated in familial Mediterranean fever and the cryopyrinopathies, respectively, are involved in regulation of the proinflammatory cytokine, IL-1beta, and may influence the activity of the transcription factor, NFkappaB. NOD2, the Blau syndrome protein, shares certain domains with cryopyrin and appears to be a sensor of intracellular bacteria. PSTPIP1, mutated in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne, interacts both with pyrin and a protein tyrosine phosphatase to regulate innate and adaptive immune responses. Somewhat unexpectedly, mutations in the p55 TNF receptor lead not to immunodeficiency but to dramatic inflammatory disease, the mechanisms of which are still under investigation. Finally, the discovery of the genetic basis of the hyperimmunoglobulinemia D with periodic fever syndrome has provided a fascinating but incompletely understood link between cholesterol biosynthesis and autoinflammation. In this manuscript, we summarize the current state of the art with regard to the diagnosis, pathogenesis, and treatment of these inborn errors of the innate immune system.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fiebre Mediterránea Familiar
/
Inmunoglobulina D
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Proteínas Portadoras
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Piodermia Gangrenosa
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Receptores del Factor de Necrosis Tumoral
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Proteínas del Citoesqueleto
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Proteínas Adaptadoras Transductoras de Señales
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Hipergammaglobulinemia
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Inmunidad Innata
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Inflamación
Límite:
Humans
Idioma:
En
Revista:
Curr Top Microbiol Immunol
Año:
2006
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
ALEMANHA
/
ALEMANIA
/
DE
/
DEUSTCHLAND
/
GERMANY