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To report a case of uveitis and papillitis in a patient with cryopyrin-associated periodic syndrome.
This article was published in the following journal.
Name: Retinal cases & brief reports
Periodic fever syndromes are a group of rare diseases with a highly variable onset, yet limited treatment options are available for children at an early age. Canakinumab has been approved to treat pat...
Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument ...
Idiopathic uveitis is frequently the most common diagnosis in series from uveitis clinics. We sought to determine the percentage of patients initially diagnosed as idiopathic, non-infectious uveitis r...
Urinary β2-microglobulin (Uβ2M) is elevated in tubulointerstitial nephritis and uveitis (TINU) syndrome and has emerged as an important diagnostic tool. This study aims to determine whether Uβ2M co...
This study will assess the safety, tolerability and efficacy of canakinumab treatment in Canadian patient diagnosed with cryopyrin-associated periodic syndrome over a period of 18 months.
To date there are no approved effective therapies for the treatment of cryopyrin-associated periodic syndromes (CAPS) including Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells...
Inflammatory symptoms of Cryopyrin-Associated Periodic Syndrome (CAPS) are due to mutations in a the NLRP-3 gene (previously known as Cold Induced Autoinflammatory Syndrome-1 or CIAS1). T...
This is an open label, single arm trial to evaluate the efficacy, safety, and pharmacokinetics of HL2351 in patients with cryopyrin associated periodic syndromes (CAPS).
Today there are no tests that allow to make a precise differential diagnosis between uveitis from presumed tuberculous origin and uveitis by sarcoidosis. Therefore, with this study, we aim...
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
Human histocompatibility (HLA) surface antigen encoded by the B locus on chromosome 6. It is strongly associated with acute anterior uveitis (UVEITIS, ANTERIOR); ANKYLOSING SPONDYLITIS; and REACTIVE ARTHRITIS.
Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.
A syndrome characterized by bilateral granulomatous UVEITIS with IRITIS and secondary GLAUCOMA, premature ALOPECIA, symmetrical VITILIGO, poliosis circumscripta (a strand of depigmented hair), HEARING DISORDERS, and meningeal signs (neck stiffness and headache). Examination of the cerebrospinal fluid reveals a pattern consistent with MENINGITIS, ASEPTIC. (Adams et al., Principles of Neurology, 6th ed, p748; Surv Ophthalmol 1995 Jan;39(4):265-292)
A form of inherited long QT syndrome (or LQT7) that is characterized by a triad of potassium-sensitive periodic paralysis, VENTRICULAR ECTOPIC BEATS, and abnormal features such as short stature, low-set ears, and SCOLIOSIS. It results from mutations of KCNJ2 gene which encodes a channel protein (INWARD RECTIFIER POTASSIUM CHANNELS) that regulates resting membrane potential.