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 …

Ocular involvement in monogenic autoinflammatory disease

I Maccora, E Marrani, MV Mastrolia… - Autoimmunity …, 2021 - Elsevier
Abstract Objective Monogenic Autoinflammatory diseases (AIDs) are a broad spectrum of
rare hereditary diseases whose ocular involvement has not been well characterized yet …

NLRP12 autoinflammatory disease: a Chinese case series and literature review

M Shen, L Tang, X Shi, X Zeng, Q Yao - Clinical Rheumatology, 2017 - Springer
As one of the systemic autoinflammatory diseases (SAIDs), the nucleotide-binding
oligomerization domain-like receptor protein (NLRP) 12 autoinflammatory disease (NLRP12 …

Effective treatment of TNFα inhibitors in Chinese patients with Blau syndrome

J Chen, Y Luo, M Zhao, D Wu, Y Yang, W Zhang… - Arthritis Research & …, 2019 - Springer
Objectives Blau syndrome (BS) is a rare dominantly inherited autoinflammatory disorder
associated with mutations in the nucleotide-binding oligomerization domain containing 2 …

Advance in pathogenesis of sarcoidosis: Triggers and progression

C Chen, N Luo, F Dai, W Zhou, X Wu, J Zhang - Heliyon, 2024 - cell.com
Sarcoidosis, a multisystemic immune disease, significantly impacts patients' quality of life.
The complexity and diversity of its pathogenesis, coupled with limited comprehensive …

Two Chinese pedigrees of Blau syndrome with thirteen affected members

D Wu, M Shen - Clinical Rheumatology, 2018 - Springer
Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized
by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide …

The roles of genetic factors in uveitis and their clinical significance

MM Yang, TYY Lai, FOJ Luk, CP Pang - Retina, 2014 - journals.lww.com
Background: Uveitis is a diverse group of intraocular inflammatory disease and is a
significant cause of visual loss worldwide. Recent studies have identified various …

Blau 综合征成年患者抗青光眼手术后并发白内障手术治疗1 例并文献复习

石博影, 梁皓, 李一洪, 唐东永 - 山东大学耳鼻喉眼 …, 2022 - ebhyxbwk.njournal.sdu.edu.cn
目的观察1 例既往确诊Blau 综合征11 年的成年患者先后出现多种眼部病变后手术治疗的效果,
为规范化诊疗, 围手术期管理提供思路及参考. 方法通过报告1 例Blau 综合征成年患者病程中 …

Blau syndrome associated with nucleotide-binding oligomerization domain containing 2 mutation in a baby from Malaysia

KF Leong, R Sato, GGK Oh, U Surana… - Indian Journal of …, 2019 - journals.lww.com
Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder
caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2) …