{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:59:02Z","timestamp":1785405542918,"version":"3.56.0"},"reference-count":25,"publisher":"Akademiai Kiado Zrt.","issue":"16","license":[{"start":{"date-parts":[[2025,4,20]],"date-time":"2025-04-20T00:00:00Z","timestamp":1745107200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"iBioScience Kft."}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2025,4,20]]},"abstract":"<jats:p>\n                    A Blau-szindr\u00f3ma ritka, autoszom\u00e1lis domin\u00e1ns \u00f6r\u00f6kl\u0151d\u00e9s\u0171 autoimmun betegs\u00e9g,\n                    tipikusan a b\u0151r, az \u00edz\u00fcletek \u00e9s a szem \u00e9rintetts\u00e9g\u00e9vel, melyet a sarcoidosis\n                    gyermekkori megjelen\u00e9s\u0171 form\u00e1j\u00e1nak tartanak. Beteg\u00fcnk egy jelenleg 23 \u00e9ves\n                    fiatalember, akin\u00e9l csecsem\u0151korban \u00e9szleltek el\u0151sz\u00f6r b\u0151rt\u00fcneteket, majd m\u00e1sf\u00e9l\n                    \u00e9vesen a kis- \u00e9s nagy\u00edz\u00fcletek gyullad\u00e1sa jelentkezett. Kisgyermekkorban uveitis,\n                    iridocyclitis \u00e9s glaucoma is kialakult. Az intenz\u00edv gyullad\u00e1sg\u00e1tl\u00f3 \u00e9s k\u00fcl\u00f6nb\u00f6z\u0151\n                    biol\u00f3giai ter\u00e1pi\u00e1k ellen\u00e9re az \u00edz\u00fcleti gyullad\u00e1s progredi\u00e1lt, \u00e9s id\u0151vel s\u00falyos\n                    contractur\u00e1k alakultak ki, melyek miatt az \u00f6n\u00e1ll\u00f3 j\u00e1r\u00e1s m\u00e1r nem lehets\u00e9ges. A\n                    szem\u00e9szeti probl\u00e9m\u00e1k komplexit\u00e1sa \u00e9s progresszi\u00f3ja a beteg l\u00e1t\u00e1s\u00e1nak csaknem\n                    teljes elveszt\u00e9s\u00e9hez vezetett, \u00e9s sz\u00e1mos seb\u00e9szeti beavatkoz\u00e1s v\u00e1lt sz\u00fcks\u00e9gess\u00e9.\n                    A Blau-szindr\u00f3m\u00e1ban szokatlan m\u00f3don, beteg\u00fcnkn\u00e9l m\u00e1sf\u00e9l \u00e9vvel ezel\u0151tt a k\u00f6zponti\n                    idegrendszer kiterjedt \u00e9rintetts\u00e9g\u00e9t \u00e9szlelt\u00fck, mely kortikoszteroidra azonban\n                    regredi\u00e1lt. A proband k\u00e9t\u00e9ves kistestv\u00e9r\u00e9n\u00e9l szint\u00e9n \u00e9szlelt\u00e9k a Blau-szindr\u00f3ma\n                    korai t\u00fcneteit Down-k\u00f3r mellett. A g\u00e9npanelvizsg\u00e1lat \u00fajgener\u00e1ci\u00f3s szekven\u00e1l\u00e1ssal\n                    a kistestv\u00e9rn\u00e9l azonos\u00edtotta heterozig\u00f3ta form\u00e1ban a\n                    <jats:italic>NOD2<\/jats:italic>\n                    g\u00e9n\n                    c.1000C&gt;T, p.(Arg334Trp) patog\u00e9n vari\u00e1ns\u00e1t, melyet kor\u00e1bban m\u00e1r le\u00edrtak\n                    Blau-szindr\u00f3m\u00e1val \u00f6sszef\u00fcgg\u00e9sben. E vari\u00e1ns jelenl\u00e9t\u00e9t a probandban is\n                    kimutattuk Sanger-szekven\u00e1l\u00e1ssal, a hordoz\u00f3s\u00e1got azonban kiz\u00e1rtuk mindk\u00e9t\n                    t\u00fcnetmentes sz\u00fcl\u0151 \u00e9s a k\u00f6z\u00e9ps\u0151 testv\u00e9r eset\u00e9ben. E ritka betegs\u00e9g tipikus\n                    klinikai \u00e9s genetikai jellegzetess\u00e9geinek ismertet\u00e9se mellett, tanulm\u00e1nyunk k\u00e9t\n                    szokatlan jelens\u00e9get is felt\u00e1r: a k\u00f6zponti idegrendszer \u00e9rintetts\u00e9g\u00e9t \u00e9s a\n                    felt\u00e9telezhet\u0151 mozaikoss\u00e1got valamelyik sz\u00fcl\u0151 ivarsejtjeiben. Orv Hetil. 2025;\n                    166(16): 623\u2013630.\n                  <\/jats:p>","DOI":"10.1556\/650.2025.33281","type":"journal-article","created":{"date-parts":[[2025,5,5]],"date-time":"2025-05-05T04:54:25Z","timestamp":1746420865000},"page":"623-630","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":1,"title":["Genetikai vizsg\u00e1lattal igazolt Blau-szindr\u00f3ma ritka klinikai megjelen\u00e9se"],"prefix":"10.1556","volume":"166","author":[{"given":"Zsuzsanna \u00c1gnes","family":"Nagy","sequence":"first","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Neurol\u00f3giai Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gy\u00f6rgy","family":"B\u00e1tor","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Szem\u00e9szeti Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1rp\u00e1d","family":"Vadv\u00e1ri","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Radiol\u00f3giai Oszt\u00e1ly Szombathely Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rton","family":"Tompa","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Molekul\u00e1ris Orvosl\u00e1s Szombathely Magyarorsz\u00e1g"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont P\u00e9cs Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria Lenke","family":"Tank\u00f3","sequence":"additional","affiliation":[{"name":"Istenhegyi Mag\u00e1nklinika, G\u00e9ndiagnosztika Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krisztina","family":"Sevcic","sequence":"additional","affiliation":[{"name":"Orsz\u00e1gos Mozg\u00e1sszervi Int\u00e9zet, Gyermekreumatol\u00f3giai Szakambulancia Budapest Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernadette","family":"K\u00e1lm\u00e1n","sequence":"additional","affiliation":[{"name":"Vas V\u00e1rmegyei Markusovszky Egyetemi Oktat\u00f3k\u00f3rh\u00e1z, Molekul\u00e1ris Orvosl\u00e1s Szombathely Magyarorsz\u00e1g"},{"name":"P\u00e9csi Tudom\u00e1nyegyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, D\u00e9k\u00e1ni Hivatal \u00e9s Szent\u00e1gothai J\u00e1nos Kutat\u00f3k\u00f6zpont P\u00e9cs, Ifj\u00fas\u00e1g u. 20., 7624 Magyarorsz\u00e1g"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"425","reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Brichova M, Klimova A, Heissigerova J, et al. 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Am J Med Genet. 1998; 76: 217\u2013221.","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<217::AID-AJMG4>3.3.CO;2-L"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Miceli-Richard C, Lesage S, Rybojad M, et al.\n                        CARD15 mutations in Blau syndrome. Nat Genet. 2001; 29:\n                    19\u201320.","DOI":"10.1038\/ng720"},{"key":"R8","doi-asserted-by":"crossref","unstructured":"Kanazawa N, Okafuji I, Kambe N, et al. Early-onset sarcoidosis and\n                        CARD15 mutations with constitutive nuclear factor-kappa-B\n                    activation: common genetic etiology with Blau syndrome. Blood 2005; 105:\n                    1195\u20131197.","DOI":"10.1182\/blood-2004-07-2972"},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Shetty AK, Gedalia A. Sarcoidosis: a pediatric perspective. 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Rinsho Shinkeigaku 2021; 61: 692\u2013695.\n                    [Japanese]","DOI":"10.5692\/clinicalneurol.cn-001600"},{"key":"R13","unstructured":"Emaminia A, Nabavi M, Mousavi Nasab M, et al. Central nervous system\n                    involvement in Blau syndrome: a new feature of the syndrome? J Rheumatol. 2007;\n                    34: 2504\u20132505. Erratum: J Rheumatol. 2008; 35: 943."},{"key":"R14","doi-asserted-by":"crossref","unstructured":"Jabs DA, Houk JL, Bias WB, et al. Familial granulomatous synovitis,\n                    uveitis, and cranial neuropathies. Am J Med. 1985; 78: 801\u2013804.","DOI":"10.1016\/0002-9343(85)90286-4"},{"key":"R15","doi-asserted-by":"crossref","unstructured":"Bradshaw MJ, Pawate S, Koth LL, et al. Neurosarcoidosis:\n                    pathophysiology, diagnosis, and treatment. 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