Management of Blau syndrome: review and proposal of a treatment algorithm
H Lassoued Ferjani, L Kharrat, D Ben Nessib… - European Journal of …, 2024 - Springer
Blau syndrome is a rare genetic granulomatosis affecting children. It could be responsible
for vision-threatening complications and articular deformation. Due to the rarity of this …
for vision-threatening complications and articular deformation. Due to the rarity of this …
Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis
M Bazewicz, J Heissigerova, C Pavesio… - Journal of Ophthalmic …, 2023 - Springer
Sarcoidosis-associated uveitis, is the predominant ocular sarcoidosis presentation, which
affects both adults and children. For adults, international ocular sarcoidosis criteria (IWOS) …
affects both adults and children. For adults, international ocular sarcoidosis criteria (IWOS) …
Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome
L Zhong, W Wang, X Tang, Y Zhang, L Gou… - Clinical …, 2024 - Springer
Objectives We aimed to determine the prevalence of cardiovascular involvement in our Blau
syndrome (BS) cohort and provide detailed analysis of their cardiovascular manifestations …
syndrome (BS) cohort and provide detailed analysis of their cardiovascular manifestations …
Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases
A Fonollosa, E Carreño, A Vitale, AK Jindal… - Frontiers in …, 2024 - frontiersin.org
Autoinflammatory diseases include disorders with a genetic cause and also complex
syndromes associated to polygenic or multifactorial factors. Eye involvement is present in …
syndromes associated to polygenic or multifactorial factors. Eye involvement is present in …
Distinct NOD2 mutations reported in three families with Blau syndrome (BS) from a single center in India-Case series and review of literature
Objective Blau syndrome (BS), considered a rare pediatric autoinflammatory disease, is
characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a …
characterised by a triad of granulomatous arthritis, dermatitis and uveitis. Here we present a …
Red Eyes—Conjunctivitis, Corneal Ulcers, Dry Eye Disease, and Acute Uveitis
A Gupta, R Bansal, A Sharma, A Kapil - Ophthalmic Signs in Practice of …, 2024 - Springer
Red eyes are among the most common complaints concerning eyes among patients
presenting to general physicians, family physicians, emergency rooms, and ophthalmology …
presenting to general physicians, family physicians, emergency rooms, and ophthalmology …
[HTML][HTML] Blau syndrome complicated by granulomatous tubulointerstitial nephritis and immune complex mediated glomerulonephritis: A case report and review of the …
KM Garrity, R Chiu, R Srivastava, DK McCurdy… - Human Pathology …, 2024 - Elsevier
Blau syndrome is a rare, autosomal dominant or de novo mutation, granulomatous, auto-
inflammatory disorder classically manifesting as a triad of polyarthritis, uveitis, and …
inflammatory disorder classically manifesting as a triad of polyarthritis, uveitis, and …
Enfermedades autoinflamatorias monogénicas
I Koné-Paut, P Dusser - EMC-Aparato Locomotor, 2024 - Elsevier
Las enfermedades autoinflamatorias (EAI) monogénicas son enfermedades raras que
comienzan en una etapa precoz de la vida y se caracterizan por la presencia de fiebre …
comienzan en una etapa precoz de la vida y se caracterizan por la presencia de fiebre …
[HTML][HTML] An Interesting Case of Blau Syndrome–A Rare Autoinflammatory Disease
S Nagpal, V Singh - Indian Journal of Medical Specialities, 2024 - journals.lww.com
Blau syndrome is an autosomal dominant, autoinflammatory disease. It typically presents in
early childhood with a triad of granulomatous uveitis, symmetrical arthritis, and dermatitis. A …
early childhood with a triad of granulomatous uveitis, symmetrical arthritis, and dermatitis. A …
[HTML][HTML] Monogenic Autoinflammatory Disease Due to Blau Syndrome with Nucleotide Oligomerization Domain 2 Gene Mutation in an Indian Family
Background: Blau syndrome is a monogenic disease resulting from mutations in nucleotide
oligomerization domain 2 (NOD2) and is phenotypically characterized by a triad of …
oligomerization domain 2 (NOD2) and is phenotypically characterized by a triad of …