OTULIN deficiency causes auto-inflammatory syndrome
نویسندگان
چکیده
منابع مشابه
Blau Syndrome, the prototypic auto-inflammatory granulomatous disease
Blau syndrome is a monogenic disease resulting from mutations in the pattern recognition receptor NOD2, and is phenotypically characterized by the triad of granulomatous polyarthritis, dermatitis and uveitis. This paper reviews briefly the classical clinical features of the disease, as well as more recently described extra-triad symptoms. From an ongoing prospective multicenter study, we provid...
متن کاملPrimary antiphospholipid syndrome: a low-grade auto-inflammatory disease?
OBJECTIVE To test the inflammation and immune activation hypothesis in primary thrombotic APS (PAPS) and to identify clinical and laboratory factors related to inflammation and immune activation. METHODS PAPS (n = 41) patients were compared with patients with inherited thrombophilia (IT, n = 44) and controls (CTR, n = 39). IgG aCL, IgG anti-beta2-glycoprotein I (beta(2)GPI), high-sensitivity ...
متن کاملThe Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity
Methionine-1 (M1)-linked ubiquitin chains regulate the activity of NF-κB, immune homeostasis, and responses to infection. The importance of negative regulators of M1-linked chains in vivo remains poorly understood. Here, we show that the M1-specific deubiquitinase OTULIN is essential for preventing TNF-associated systemic inflammation in humans and mice. A homozygous hypomorphic mutation in hum...
متن کاملAuto-inflammatory diseases
Auto-inflammatory diseases are a rapidly moving field, where the description of new entities, the understanding of the pathogenesis and the treatment has shown important progress in the past years. This group of conditions include monogenic auto-inflammatory diseases, like FMF, CAPS, TRAPS and MKD, and non-monogenic autoinflammatory diseases, like PFAPA, SoJIA, CRMO, and Behçet. The most common...
متن کاملHACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
BACKGROUND The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait. ME...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cell Research
سال: 2016
ISSN: 1001-0602,1748-7838
DOI: 10.1038/cr.2016.113