P Sfriso, F Caso, S Tognon, P Galozzi, A Gava… - Autoimmunity …, 2012 - Elsevier
Blau syndrome (BS) is a rare autosomal dominant, autoinflammatory syndrome characterized by the clinical triad of granulomatous recurrent uveitis, dermatitis and …
Blau syndrome (BS) and early onset sarcoidosis (EOS) are, respectively, the familial and sporadic forms of the pediatric granulomatous autoinflammatory disease, which belong to …
G Tromp, H Kuivaniemi, S Raphael… - American journal of …, 1996 - ncbi.nlm.nih.gov
Abstract Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific …
AR Group - Journal of Clinical Epidemiology, 1999 - Elsevier
Sarcoidosis is a chronic granulomatous disorder of unknown cause, characterized by activation of T-lymphocytes and macrophages. A Case Control Etiologic Study of …
CD Rose, TM Martin, CH Wouters - Current opinion in …, 2011 - journals.lww.com
Blau syndrome revisited : Current Opinion in Rheumatology Blau syndrome revisited : Current Opinion in Rheumatology Log in or Register Subscribe to journalSubscribe Get …
CEI Janssen, CD Rose, G De Hertogh… - Journal of Allergy and …, 2012 - Elsevier
BACKGROUND: Blau syndrome (BS) and Crohn disease (CD) are both characterized by granulomatous inflammation and related to nucleotide oligomerization domain 2 (NOD2) …
J Poline, O Fogel, C Pajot… - Journal of the …, 2020 - Wiley Online Library
Background Blau syndrome (BS) is a rare monogenic autoinflammatory disease caused by NOD 2 mutations. BS classically presents in early childhood as a triad of granulomatous …
S Manouvrier‐Hanu, B Puech, F Piette… - American journal of …, 1998 - Wiley Online Library
Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal‐dominant trait with variable expressivity. So far it was described in 5 families …
T Kurokawa, T Kikuchi, K Ohta, H Imai, N Yoshimura - Ophthalmology, 2003 - Elsevier
PURPOSE: To report cases of Blau syndrome with a CARD15/Nod2 mutation. DESIGN: Observational and interventional case report. PARTICIPANTS: A 10-year-old Japanese boy …