A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene

Authors: Coto-Segura, P.; Mallo-Garcia, S.; Costa-Romero, M.1; Arostegui, J.I.2; Yague, J.2; Ramos-Polo, E.1; Santos-Juanes, J.

Source: British Journal of Dermatology, Volume 157, Number 6, December 2007 , pp. 1257-1259(3)

Publisher: Blackwell Publishing

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Abstract:

Summary

Sarcoidosis is a multisystem granulomatous disorder characterized by the infiltration of noncaseating granulomata in the affected tissues. We report here the clinical case of a Caucasian Spanish patient suffering from sporadic early-onset sarcoidosis (EOS) with simultaneous cutaneous and articular symptoms. NOD2 (nucleotide-binding oligomerization domain; previously known as CARD15, caspase recruitment domain) gene mutational analysis revealed the presence of the recurrent R334W missense mutation. As in previously reported EOS cases, our patient was initially misdiagnosed with dermatitis.

Keywords: Blau syndrome; early-onset sarcoidosis; NOD2/CARD15

Document Type: Research article

DOI: 10.1111/j.1365-2133.2007.08210.x

Affiliations: 1: Pediatrics, Asturias Central University Hospital, Asturias, Spain 2: Department of Immunology, Hospital Clinic i Provincial de Barcelona, Barcelona, Spain

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