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Clinical Rheumatology

Erschienen in:

01.02.2015 | Case Based Review

Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature

verfasst von: Francesco La Torre, Giovanni Lapadula, Luca Cantarini, Orso Maria Lucherini, Florenzo Iannone

Erschienen in: Clinical Rheumatology | Ausgabe 2/2015

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Abstract

Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding for the nucleotide-binding domain region of the NOD2/CARD15 gene with subsequent dysregulation of the inflammatory response and formation of noncaseous granulomas. They include Blau syndrome (BS) and early-onset sarcoidosis (EOS); both are clinically and genetically indistinguishable between them and they are the familial (autosomal dominantly inherited) and sporadic forms of the same disease, respectively. We describe a case of EOS, misdiagnosed for 30 years such as “juvenile rheumatoid arthritis” before and “classic sarcoidosis” later. In our patient, we found a new de novo mutation (E383G) in NOD2 that has been reported only in a family of Japanese patients with BS. After long-term follow-up (42 months), infliximab maintained good efficacy and safety without any sign of disease relapse and side effects.

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Titel: Early-onset sarcoidosis caused by a rare CARD15/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature
verfasst von: Francesco La Torre
Giovanni Lapadula
Luca Cantarini
Orso Maria Lucherini
Florenzo Iannone
Publikationsdatum: 01.02.2015
Verlag: Springer London
Erschienen in: Clinical Rheumatology / Ausgabe 2/2015
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI: https://doi.org/10.1007/s10067-014-2493-6

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