Monogenic autoinflammatory diseases
نویسندگان
چکیده
منابع مشابه
Monogenic autoinflammatory diseases.
During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible. Although a group of pat...
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Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulat...
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Address: 1UO Pediatria II, Istituto Gaslini and Dipartimento di Pediatria, Università di Genova, Genova, Italy, 2University Medical Center, Utrecht, Utrecht, Italy, 3Hacettepe University Faculty of Medicine, Ankara, Turkey, 4Bambino Gesù Pediatric Hospital, Roma, Italy, 5Centre HospitaloUniversitaire de Bicêtre, Le Kremlin Bicêtre, France, 6Hopital Necker-Enfants Malades, Paris, France, 7Univer...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2014
ISSN: 1462-0324,1462-0332
DOI: 10.1093/rheumatology/keu170