Blau syndrome: NOD2-related systemic autoinflammatory granulomatosis.

Blau syndrome: NOD2-related systemic autoinflammatory granulomatosis. G Ital Dermatol Venereol. 2020 Jul 02;: Authors: Takada S, Saito MK, Kambe N Abstract Blau syndrome, or early-onset sarcoidosis, is hereditary juvenile-onset systemic granulomatosis. Clinical symptoms appear before the age of 4 years and mainly affect the skin, joints, and eyes. The symptoms are progressive and cause severe complications, such as joint destruction and blindness. Although tumor necrosis factor alpha (TNFα) antagonists are effective for controlling some of the symptoms of Blau syndrome, there is no specific curative treatment. Heterozygous mutations in nucleotide-binding oligomerization domain 2 (NOD2) were identified as the cause of Blau syndrome onset. NOD2 is an intracellular pathogen recognition receptor, the ligand of which is muramyl dipeptide (MDP) found in bacterial cell walls. Upon binding to MDP, NOD2 activates the NF-κB pathway, which leads to upregulation of proinflammatory cytokines. However, the detailed molecular mechanisms by which disease associated NOD2 mutations lead to autoinflammation and granuloma formation are still unclear. To clarify the relationship between disease associated NOD2 mutations and the inflammatory response, we established induced pluripotent stem (iPS) cells from Blau syndrome patients. Functional analyses using these iPS cells suggested that IFNγ is a critical mediator of the inflammatory manifestations in this di...
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research

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CONCLUSION: Eye involvement is present in approximately one fifth of rheumatoid arthritis patients, and one quarter to one third of patients with connective tissue diseases (other than Sjogren's syndrome at 90%) and vasculitis. PMID: 32358156 [PubMed - as supplied by publisher]
Source: J Rheumatol - Category: Rheumatology Authors: Tags: J Rheumatol Source Type: research
Abstract Intraocular inflammation with the imprecise and broad umbrella term "uveitis" is a diagnostic and therapeutic challenge in ophthalmology. Uveitis is one of the most common causes of blindness worldwide and due to the associated costs is comparable to diabetic retinopathy. Patients can be affected by uveitis at any age. Any part of the eye may be affected. The symptoms range from complete absence of symptoms, through all types of vision deterioration up to a red and even very painful eye. Uveitis can be strictly unilateral (also alternating from the left to the right eye) or bilateral w...
Source: Zeitschrift fur Rheumatologie - Category: Rheumatology Authors: Tags: Z Rheumatol Source Type: research
Conclusion: The incidence in the wider district of Split-Dalmatian county is low (3.1-3.4), the most common form is the stage II endothoracal sarcoidosis. Patients live a number of years without any significant complications. Mortality is low, 1.56%, which is directly associated with S.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Epidemiology Source Type: research
Conclusions: Neurosarcoidosis is an elusive diagnosis and can cause hearing loss and psychiatric symptoms. Cochlear implantation for patients with severe hearing loss should be considered once the diagnosis is confirmed, as it is possible to achieve a successful level of hearing. Psychiatric symptoms can manifest with the onset of neurosarcoidosis, result from CN deficits, or develop as a side effect from long-term, high-dose corticosteroids, and should be monitored carefully in patients with neurosarcoidosis.Audiol Neurotol 2017;22:205-217
Source: Audiology and Neurotology - Category: Audiology Source Type: research
D is an 18-year-old woman with a past medical history significant for infantile sarcoidosis and a very complicated course, including multiple hospitalizations for renal failure secondary to sarcoidosis, gastrointestinal disease and rapid weight loss, and legal blindness due to uncontrolled uveitis during the course of her childhood. Her management has included subspecialists from rheumatology, ophthalmology, nephrology, and gastroenterology. At the time of transition, she was having recurrent flares that required multiple eye procedures to prevent complete vision loss and loss of independence.
Source: Current Problems in Pediatric and Adolescent Health Care - Category: Pediatrics Authors: Source Type: research
By Erica Hilton In 2013, I woke up one day and was unable to open my left eye. Daylight tortured my eye. Bright lights were impossible. This was a painful interruption in the excitement and promise of my life. I had recently earned my master’s degree and started my “dream job” as an online activism manager. Here I was in the middle of this new journey, and I couldn’t keep one eye open. I made an emergency appointment with an ophthalmologist who then sent me to see a specialist. The inflammation in my eye remained for weeks. Eventually it cleared up only to reoccur again a few weeks later. Since 2013...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
Abstract Ocular manifestation of sarcoidosis occurs in up to 60% of patients with confirmed systemic sarcoidosis and represents one of the most common forms of noninfectious uveitis. In known pulmonary sarcoidosis, ocular involvement can occur in up to 80% of cases. Sarcoidosis can also present only in the eye, without a systemic manifestation (ocular sarcoidosis). Typically, ocular sarcoidosis shows bilateral granulomatous uveitis and can involve all parts of the eye. Apart from an acute anterior uveitis, chronic intermediate or posterior uveitis can be found. In order to prevent a severe reduction of v...
Source: Zeitschrift fur Rheumatologie - Category: Rheumatology Authors: Tags: Z Rheumatol Source Type: research
CONCLUSION: To date, there are few dedicated investigations of risk factors for OS, especially smoking. This investigation identified male sex, age, and tobacco exposure as independent risk factors for OS. Though disease duration did not withstand regression analysis in this moderately sized group, age at chart review suggests screening for OS should not remit but rather intensify in aging patients with sarcoidosis. (Sarcoidosis Vasc Diffuse Lung Dis 2015; 32: 183-143). PMID: 26278693 [PubMed - in process]
Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
Publication date: Available online 14 July 2015 Source:Joint Bone Spine Author(s): Pascal Sève, Laurent Kodjikian, Léopold Adélaïde, Yvan Jamilloux Rheumatologists may need to establish the etiological diagnosis and handle the therapeutic management of adults with uveitis. To date, no diagnostic strategy for uveitis has been validated by prospective studies. Investigations are selected based on the clinical features and on the anatomic location of the ocular abnormalities. Infections such as syphilis, Lyme disease, tuberculosis, and Whipple's disease may cause uveitis, with concomitant joint...
Source: Joint Bone Spine - Category: Orthopaedics Source Type: research
A 51-year-old Hispanic woman with a history of Churg-Strauss syndrome (in remission for 20 years)–associated mesangial glomerulonephritis and end-stage renal disease with a recent renal transplant and previously cured cytomegalovirus (CMV) infection who was on a tapering dose of tacrolimus presented with sudden onset of lower extremity numbness. Symptoms progressed to complete paraplegia and sensory loss over 24 hours. The following day, ascending paresis extended to bilateral upper extremities, with high thoracic sensory level and complete blindness. Initial MRI revealed contrast enhancement of bilateral prechiasmat...
Source: Neurology Neuroimmunology and Neuroinflammation - Category: Neurology Authors: Tags: EMG, Devic's syndrome, Optic neuritis; see Neuro-ophthalmology/Optic Nerve, Transverse myelitis, Autoimmune diseases Clinical/Scientific Notes Source Type: research
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