Results 11 to 20 of about 8,365 (219)

Adalimumab-responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of <i>TGFBR2</i> Variant in Loeys-Dietz Syndrome. [PDF]

DEN Open
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Sado T, Ukai S, Kurasawa S, Kono Y, Hasuda N, Iwaya M, Nakane T, Yamaguchi T, Kosho T, Nakayama Y.   +9 more
europepmc   +2 more sources

Frequencies of the MEFV Gene Mutations in Azerbaijan [PDF]

Balkan Journal of Medical Genetics, 2021
Abstract The MEFV (familial Mediterranean fever gene) researches were performed in the population of the Republic of Azerbaijan in 2016–2021. Seven mutations of the MEFV gene were identified in heterozygous, homozygous and compound homozygous conditions: R761H, M694I, M694V, V726A, R202Q, M680I and E148Q.
Huseynova LS, Mammadova SN, Aliyeva KAA
openaire   +5 more sources

MEFV mutations in Beh�et's disease [PDF]

Human Mutation, 2000
Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function.
I, Touitou, X, Magne, N, Molinari, A, Navarro, A L, Quellec, P, Picco, M, Seri, S, Ozen, A, Bakkaloglu, A, Karaduman, J M, Garnier, J, Demaille, I, Koné-Paut   +12 more
openaire   +2 more sources

Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study [PDF]

Iranian Journal of Medical Sciences, 2023
Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 2019 (COVID-19) became a pandemic and caused a global health crisis.
Farhad Salehzadeh, Farhad Pourfarzi, Rasool Molatefi, Behzad Davarnia, Ehsan Shahbazfar, Farzad Ahmadabadi   +5 more
doaj   +1 more source

MEFV mutations in systemic JIA [PDF]

Pediatric Rheumatology, 2008
Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide.
Aktay Ayaz N, Bilginer Y, Yilmaz E, Ergüven M, Topaloglu R, Bakkaloglu A, Ozen S   +6 more
openaire   +2 more sources

Evaluation of the Effect of IL-1 Antagonists on Pituitary Function. [PDF]

Int J Endocrinol
Background Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease frequently observed in populations along the Eastern Mediterranean coast, characterized by recurrent fever, abdominal pain, and joint inflammation. The disease results from mutations in the MEFV gene, which plays a critical role in regulating IL‐1β secretion ...
Aktas Koc F, Sariakcali B, Sahin A.
europepmc   +2 more sources

Autoinflammation due to homozygous S208 MEFV mutation [PDF]

Annals of the Rheumatic Diseases, 2019
Heterozygous mutations in the MEFV gene disrupting the Serine-242 residue in the 14-3-3 binding motif of pyrin cause Pyrin-AssociatedAutoinflammation with Neutrophilic Dermatosis (PAAND).1–5 We now describe familial autoinflammation associated with homozygous Serine-208 mutations in MEFV , the second crucial phosphorylation site of the pyrin 14-3-3 ...
Ying Hong, Ariane S I Standing, Sira Nanthapisal, Neil Sebire, Stephen Jolles, Ebun Omoyinmi, Ruud HJ Verstegen, Paul A Brogan, Despina Eleftheriou   +8 more
openaire   +3 more sources

Evaluation of the Clinical Effects and Frequency of MEFV Gene Mutation in Patients with Inflammatory Bowel Disease

Gastroenterology Research and Practice, 2021
Background. The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar. Objective. Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD ...
S. Sahin, D. Gulec, S. Günay, C. Cekic
doaj   +1 more source

Repeated Necrotizing Lymphadenitis with MEFV Gene Mutations.

Internal medicine (Tokyo, Japan), 2021
We herein report a 36-year-old man with repeated necrotizing lymphadenitis due to MEFV gene mutations. The patient's chief complaints were a fever and painful cervical lymphadenopathy. We diagnosed him with necrotizing lymphadenitis based on the pathological findings of the lymph nodes and the exclusion of other differential diseases.
Yamamura, Yuta, Furuichi, Kengo, Toyama, Tadashi, Oshima, Megumi, Ogura, Hisayuki, Sato, Koichi, Nakagawa, Shiori, Miyagawa, Taro, Kitajima, Shinji, Hara, Akinori, Iwata, Yasunori, Sakai, Norihiko, Shimizu, Miho, Ikeda, Hiroko, Toma, Tomoko, Takasawa, Kazuya, Yachie, Akihiro, Wada, Takashi   +17 more
openaire   +2 more sources

Association of MEFV mutations and vascular involvement in Behcet’s disease: a study from Hatay, Turkey

Rheumatology, 2022
Introduction In this study, we aimed to determine the frequency of MEFV mutations in Behçet’s disease (BD) and to investigate the relationship between clinical findings of the disease and the MEFV mutations.
Gamze Serarslan, Sibel Elmacıoğlu Cura, Gezmiş Kimyon, Gökhan Üçgül, Mehmet Karadağ   +4 more
doaj   +1 more source