Ocular involvement in sarcoidosis

A Rothova - British Journal of Ophthalmology, 2000 - bjo.bmj.com
Sarcoidosis is a chronic multisystemic granulomatous disorder thought to result from an
exaggerated cellular immune response to a variety of self antigens or non-self antigens. 1 …

Blau syndrome, clinical and genetic aspects

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 …

Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

F Caso, L Costa, D Rigante, A Vitale, R Cimaz… - Autoimmunity …, 2014 - Elsevier
Blau syndrome (BS) and early onset sarcoidosis (EOS) are, respectively, the familial and
sporadic forms of the pediatric granulomatous autoinflammatory disease, which belong to …

Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

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 …

Design of a case control etiologic study of sarcoidosis (ACCESS)

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 …

Blau syndrome revisited

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 …

Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2–related disorders Blau syndrome and Crohn …

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) …

Early‐onset granulomatous arthritis, uveitis and skin rash: characterization of skin involvement in Blau syndrome

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 …

Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature

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 …

Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation

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 …