Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab.

Abstract:

:The proband in this study was a 4-year-old Mexican girl with Blau syndrome. She and her affected family members had skin rash and arthritis but no uveitis. Exome sequencing and DNA direct sequencing from blood samples revealed a novel nucleotide-binding oligomerization domain-containing protein 2 gene mutation in the affected family members. This study is the first report of a Mexican family with Blau syndrome showing good infliximab treatment response. The novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene (c.1808A>G) enriches the mutation spectrum in Blau syndrome. This family represents one of the few cases of autosomal Blau syndrome with no uveitis; because of phenotype variability, it is important to recognize Blau syndrome's clinical spectrum and recommend genetic consultation.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Toral-López J,González-Huerta LM,Martín-Del Campo M,Messina-Baas O,Cuevas-Covarrubias SA

doi

10.1111/pde.13475

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

e180-e183

issue

3

eissn

0736-8046

issn

1525-1470

journal_volume

35

pub_type

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