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The diseases are characterized by a triad of skin rashes, symmetrical polyarthritis, and recurrent uveitis. The most common morbidity is ocular involvement, which is usually refractory to conventional treatment. A gain-of-function mutation in the nucleotide-binding oligomerization domain-containing protein 2 (<jats:italic>NOD2<\/jats:italic>) gene has been demonstrated in this disease; however, little is known about the relationship between the activation of<jats:italic>NOD2<\/jats:italic>and the pathophysiology of EOS\/BS. Here we describe EOS\/BS with a novel mutation in the<jats:italic>NOD2<\/jats:italic>gene, as well as detection of<jats:italic>Propionibacterium acnes<\/jats:italic>(<jats:italic>P. acnes<\/jats:italic>) in the granulomatous inflammation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>An 8-year-old Japanese girl presented with refractory bilateral granulomatous panuveitis. Although no joint involvement was evident, she exhibited skin lesions on her legs; a skin biopsy revealed granulomatous dermatitis, and<jats:italic>P. acnes<\/jats:italic>was detected within the sarcoid granulomas by immunohistochemistry with<jats:italic>P. acnes<\/jats:italic>-specific monoclonal (PAB) antibody. Genetic analyses revealed that the patient had a<jats:italic>NOD2<\/jats:italic>heterozygous D512V mutation that was novel and not present in either of her parents. The mutant<jats:italic>NOD2<\/jats:italic>showed a similar activation pattern to EOS\/BS, thus confirming her diagnosis. After starting oral prednisolone treatment, she experienced an anterior vitreous opacity relapse despite gradual prednisolone tapering; oral methotrexate was subsequently administered, and the patient responded positively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We presented a case of EOS\/BS with a novel D512V mutation in the<jats:italic>NOD2<\/jats:italic>gene. In refractory granulomatous panuveitis cases without any joint involvement, EOS\/BS should be considered as a differential diagnosis; genetic analyses would lead to a definite diagnosis. Moreover, this is the first report of<jats:italic>P. acnes<\/jats:italic>demonstrated in granulomas of EOS\/BS. Since intracellular<jats:italic>P. acnes<\/jats:italic>activates nuclear factor-kappa B in a<jats:italic>NOD2-<\/jats:italic>dependent manner, we hypothesized that the mechanism of granuloma formation in EOS\/BS may be the result of<jats:italic>NOD2<\/jats:italic>activity in the presence of the ligand muramyl dipeptide, which is a component of<jats:italic>P. acnes.<\/jats:italic>These results indicate that recognition of<jats:italic>P. acnes<\/jats:italic>through mutant<jats:italic>NOD2<\/jats:italic>is the etiology in this patient with EOS\/BS.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12969-021-00505-5","type":"journal-article","created":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T08:36:57Z","timestamp":1613637417000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A novel mutation in early\u2010onset sarcoidosis\/Blau syndrome: an association with Propionibacterium acnes"],"prefix":"10.1186","volume":"19","author":[{"given":"Fumiko","family":"Okazaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Wakiguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuno","family":"Korenaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamaki","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Yasudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shohei","family":"Uchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoji","family":"Yanai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyuki","family":"Asano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinobu","family":"Hoshii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsuyoshi","family":"Tanabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazushi","family":"Izawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshitaka","family":"Honda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuta","family":"Nishikomori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keisuke","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinobu","family":"Eishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shouichi","family":"Ohga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunji","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,18]]},"reference":[{"key":"505_CR1","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1182\/blood-2004-07-2972","volume":"105","author":"N Kanazawa","year":"2005","unstructured":"Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, et al. 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