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Sahin N., Cicek S. O., PAÇ KISAARSLAN A., Gunduz Z., POYRAZOĞLU M. H., Dusunsel R.
TURKISH JOURNAL OF PEDIATRICS, vol.63, no.2, pp.323-328, 2021 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
63
Issue:
2
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Publication Date:
2021
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Doi Number:
10.24953/turkjped.2021.02.018
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Journal Name:
TURKISH JOURNAL OF PEDIATRICS
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
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Page Numbers:
pp.323-328
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Keywords:
Blau syndrome, early-onset sarcoidosis, encephalopathy, sarcoidosis, PEDIATRIC GRANULOMATOUS ARTHRITIS, BLAU-SYNDROME, CARD15 MUTATIONS, NOD2, PHENOTYPE, SUSCEPTIBILITY, AUTOIMMUNE, DIAGNOSIS
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Kocaeli University Affiliated:
No
Abstract
Background. Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding the nucleotide-binding domain of the nucleotide-binding oligomerization domain-containing 2 gene. Blau syndrome and early-onset sarcoidosis are familial and sporadic forms of the same disease and are very rare. Many organ systems may be involved; however, neurologic involvement is infrequent. We reported a case of encephalitis in a 12-year-old girl followed with a diagnosis of early-onset sarcoidosis.