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Article

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2018

Whyte Michael P, Lim Emilina, McAlister William H, Gottesman Gary S, Trinh Lien, Veis Deborah J, Bijanki Vinieth N, Boden Matthew G, Nenninger Angela, Mumm Steven, Buchbinder David

Abstract excerpt

Pediatric granulomatous arthritis (PGA) refers to two formerly separate entities: autosomal dominant Blau syndrome (BS) and its sporadic phenocopy early-onset sarcoidosis (EOS). In 2001 BS and in 2005 EOS became explained by heterozygous mutations within the gene that encodes nucleotide-binding oligomerization domain-containing protein 2 (NOD2), also called caspase recruitment domain-containing protein 15...

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Identifiers

PMID: 29933504
DOI: 10.1002/jbmr.3532
PMCID: PMC6636828

Genes

NOD2

Variants

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Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis.PMID 29933504Read ↗

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