periodic fever, familial, autosomal dominant

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periodic fever, familial, autosomal dominant

A hereditary periodic fever syndrome (OMIM:142680) characterised by recurrent fever, abdominal pain, localised tender skin lesions and myalgia. The main complication is amyloidosis, which occurs in 25% of cases.
 
Molecular pathology
Caused by defects of TNFRSF1A, which encodes a major receptor for TNF-alpha that activates NF-kappaB, mediates apoptosis and regulates inflammation.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
With the help of FHF, Dep-Ed, DOH, and other partner agencies, the ophthalmology center will get enough assistance with the help of newly hired ophthalmologists in the province.
Dr Kwarko was speaking at an outreach programme at Akyeremade in the Atwima Kwawoma district of the Ashanti region where International Federation of Medical Students of Africa, which was holding annual conference at the Kwame Nkrumah University of Science and Technology (KNUST) teamed up with FHF to screen the people of Akyeremade, Behenase and Kwawoma.
Institute of Ophthalmology Principal Prof Asad Aslam Khan briefed Rafique regarding the services of FHF including their assistance in preventing and treating eye diseases, alongside strengthening ophthalmology departments in the public sector by providing equipment and training.
Asad Aslam further said that FHF and CBM have rendered invaluable services for the promotion of eye healthcare facilities in Pakistan especially in Punjab.
By employing a knock-in approach, the authors showed that Hopx expression initiates shortly after the expression of FHF marker Nkx2-5.
The FHF was founded by late professor Fred Hollows and his wife Gabi.
The Fred Hollows Foundation (FHF) will work to alleviate blindness through its new regional office in Dubai, the international charity organisation announced on Monday.
This is the third partnership between the EU and the FHF for the benefit of strengthening the inclusive education sector in East Jerusalem.
The program was developed according to FHF's experience working in East Jerusalem schools in an attempt to counter the effects of the Israeli occupation.
The guest of honor, Singaporean Ambassador Kok Li Peng, crowned the bamboo poles with salakot to formally open the exhibit, with Armita Rufino and Araceli Salas of FHF, NCCA executive director Rico Pableo, as well as Millie Dizon and Perkin So of SM.
Efforts by WDL to improve dairy herd management and milk production were enhanced as a result of partnerships with Farmers Helping Farmers (FHF; a Canadian non-government organization) beginning in 1996 and with the Atlantic Veterinary College of the University of Prince Edward Island, Canada (beginning in 2003).
It may progress to coagulation defects, fulminant hepatic failure (FHF) and encephalopathy.