Article

Novel mutation in NOD2 gene with report on three families with Blau syndrome (BS) from a single centre in India - case series and review of literature

2023-02-15

Abstract excerpt

Blau syndrome ( BS ) , considered a rare pediatric autoinflammatory disease, is characterized by a triad of granulomatous arthritis, dermatitis and uveitis . Here we present a tale of three families evaluated in our outpatient department over the last two years (2020-2022). More than one member of the family was affected with either skin, ophthalmological and joint involvement with either biopsy-proven granuloma o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7d3fa25f-f798-5a5c-80fc-83403bcfee2b
DOI: 10.21203/rs.3.rs-2565864/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in NOD2 gene with report on three families with Blau syndrome (BS) from a single centre in India - case series and review of literatureDOI 10.21203/rs.3.rs-2565864/v1Read

Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India - Case series and review of literature.Semantic proximity Read

A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.Semantic proximity Read

Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.Semantic proximity Read

Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report.Semantic proximity Read

Long-term prognosis of 47 pediatric patients with Blau syndrome in China.Semantic proximity Read

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.Semantic proximity Read

Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.Semantic proximity Read

NOD2 Genes Mutation in a Blau Syndrome Accompany with Congenital Hyperuricemia: A Case ReportSemantic proximity Read

A Pediatric Case of Blau Syndrome with NOD2 p.Arg587Cys Mutation Successfully Managed with Infliximab: A Long-Term Follow-Up Study.Semantic proximity Read

[Mutations of NOD2 gene and clinical features in Chinese Blau syndrome patients].Semantic proximity Read

Blau syndrome-associated uveitis and the NOD2 gene.Semantic proximity Read

Blau syndrome, the prototypic auto-inflammatory granulomatous disease.Semantic proximity Read