Sarcoidosis, early-onset

Definition:

Early-onset sarcoidosis (EOS) is a special subtype of sarcoidosis, a systematic inflammatory disease with unknown etiology. It occurs in children younger than 4 years of age and is characterized by a distinct triad of skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate immune system that can act as a potent activator and regulator of inflammation.

References:

[1]. Arturo Borzutzky, et al. NOD2-associated diseases: Bridging innate immunity and autoinflammation. Clin Immunol. 2010 Mar;134(3):251-61. [Content Brief]

[2]. Ikuo Okafuji, et al. Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. Arthritis Rheum. 2009 Jan;60(1):242-50. [Content Brief]

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