Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

Mensa-Vilaro A 1 , Tarng Cham W 2 , Ping Tang S 2 , Chin Lim S 2 , González-Roca E 1 , Ruiz-Ortiz E 1 Show all authors , Ariffin R 3 , Yagüe J 1 , Aróstegui JI 1

Affiliations 

  • 1 Hospital Clinic-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
  • 2 Selayang Hospital, Kuala Lumpur, Malaysia
  • 3 Kuala Lumpur Hospital, Kuala Lumpur, Malaysia
Arthritis Rheumatol, 2016 Apr;68(4):1039-44.
PMID: 26606664 DOI: 10.1002/art.39519

Abstract

Blau syndrome is characterized by noncaseating granulomatous arthritis, dermatitis, and uveitis, and results from gain-of-function NOD2 mutations. This study was undertaken to identify the genetic cause of the disease in a family with 3 members with Blau syndrome.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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