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Article

Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.

The Journal of rheumatology - 1 Feb 2010

Hurtado-Nedelec Margarita, Chollet-Martin Sylvie, Chapeton Diana, Hugot Jean-Pierre, Hayem Gilles, Gérard Bénédicte

Abstract excerpt

OBJECTIVE: The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare disorder that mainly affects bone and skin. Chronic multifocal osteitis is the main diagnostic feature. Genetic studies of HLA genes have shown no role for these class II antigens, whereas studies of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20032092
DOI: 10.3899/jrheum.090456

Genes

PSTPIP2
LPIN2
NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20032092-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.PMID 20032092Read ↗

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Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene.Semantic proximity Read ↗

Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.Semantic proximity Read ↗

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Genetic variants in FBLIM1 gene do not contribute to SAPHO syndrome and chronic recurrent multifocal osteomyelitis in typical patient groups.Semantic proximity Read ↗

Different Contributions of CDKAL1, KIF21B, and LRRK2/MUC19 Polymorphisms to SAPHO Syndrome, Rheumatoid Arthritis, Ankylosing Spondylitis, and Seronegative Spondyloarthropathy.Semantic proximity Read ↗

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndromeSemantic proximity Read ↗

Towards the definition of disease phenotypes in paediatric SAPHO syndrome: a national multicentric study.Semantic proximity Read ↗

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