A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Papa, Riccardo ^a   Doglio, Matteo ^a   Lachmann, Helen J ^b   Ozen, Seza ^c   Frenkel, Joost ^d   Simon, Anna ^e   Neven, Bénédicte ^f   Kuemmerle Deschner, Jasmin ^g   Ozgodan, Huri ^h   Caorsi, Roberta ^a   Federici, Silvia ^a   Finetti, Martina ^a   Trachana, Maria ⁱ   Brunner, Jurgen ^j   Bezrodnik, Liliana ^k   Pinedo Gago, Mari Carmen ^l   Maggio, Maria Cristina ^m   Tsitsami, Elena ⁿ   Al Suwairi, Wafaa ^o   Espada, Graciela ^k   Shcherbina, Anna ^p   Aksu, Guzide ^q   Ruperto, Nicolino ^a   Martini, Alberto ^a   Ceccherini, Isabella ^a   Gattorno, Marco ^a   more..

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c HACETTEPE UNIVERSITY   (Turkey)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^j Universitatsklinik fur Kinder und Jugendheilkunde Innsbruck   (Austria)

^k HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^l HOSPITAL DE CRUCES   (Spain)

^m Dipartimento Universitario   (Italy)

ⁿ UNIVERSITY OF ATHENS   (Greece)

^o KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^p Res Inst for Paediatric Hematology   (Russian Federation)

^q EGE UNIVERSITY   (Turkey)

more..

Author keywords

Caps; Eurofever; FMF; Genotype phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps

Indexed keywords

ADALIMUMAB; ALLOPURINOL; ANAKINRA; CANAKINUMAB; CIMETIDINE; COLCHICINE; CRYOPYRIN; CYCLOSPORIN; CYSTEINE; ETANERCEPT; INFLIXIMAB; METHOTREXATE; MEVALONATE KINASE; MYCOPHENOLATE MOFETIL; NONSTEROID ANTIINFLAMMATORY AGENT; SALAZOSULFAPYRIDINE; STEROID; THALIDOMIDE;

ABDOMINAL PAIN; ADENOIDECTOMY; ALOPECIA AREATA; AMYLOIDOSIS; APHTHOUS STOMATITIS; ARTHRALGIA; ARTHRITIS; ARTICLE; BONE EROSION; CATARACT; CHILL; CHOLELITHIASIS; CINCA SYNDROME; COMPRESSION FRACTURE; CONSTIPATION; CONTROLLED STUDY; CRANIAL NEUROPATHY; DELAYED PUBERTY; DIARRHEA; DIGITAL CLUBBING; DISEASE COURSE; DISEASE DURATION; DIVERTICULITIS; DNA POLYMORPHISM; ENZYME ACTIVITY; EXON; FACIAL NERVE PARALYSIS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FLEXION CONTRACTURE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEADACHE; HEARING IMPAIRMENT; HEPATITIS A; HEPATOMEGALY; HEREDITARY RECURRENT FEVER; HETEROZYGOSITY; HUMAN; HYDROCEPHALUS; HYPEROSTOSIS; HYPERTENSION; INFERTILITY; INJECTION SITE PUSTULE; INTESTINE PERFORATION; INTRON; KERATOPATHY; KIDNEY DISEASE; KIDNEY FAILURE; LIVER GRAFT REJECTION; LIVER TRANSPLANTATION; MACROPHAGE ACTIVATION SYNDROME; MACULOPAPULAR RASH; MAINTENANCE THERAPY; MAJOR CLINICAL STUDY; MALE; MEFV GENE; MENTAL DEFICIENCY; MEVALONATE KINASE DEFICIENCY; MONARTHRITIS; MVK GENE; MYALGIA; NEUROPATHY; NLRP3 GENE; ONSET AGE; OPTIC NERVE ATROPHY; OPTIC NEURITIS; ORCHITIS; OSTEOPOROSIS; PERITONEUM ADHESION; PHARYNGITIS; PLEURISY; RECURRENT FEVER; REGISTER; RETINITIS PIGMENTOSA; RETROSPECTIVE STUDY; SEIZURE; SKIN MANIFESTATION; SPLENOMEGALY; TENOSYNOVITIS; TINNITUS; TNFRSF1A GENE; TONSILLECTOMY; TREATMENT RESPONSE; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; VISUAL IMPAIRMENT; VOMITING; WHITE MATTER LESION; EUROPE; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETICS; HEREDITARY PERIODIC FEVER;

DATABASES, GENETIC; EUROPE; GENETIC ASSOCIATION STUDIES; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; REGISTRIES; RETROSPECTIVE STUDIES;

EID: 85031757744     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0720-3     Document Type: Article

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