Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Shinar, Yael ^a   Tohami, Tali ^b   Livneh, Avi ^a   Schiby, Ginette ^a   Hirshberg, Abraham ^a   Nagar, Meital ^b   Goldstein, Itamar ^a   Cohen, Rinat ^a   Kukuy, Olga ^b   Shubman, Ora ^c   Sharabi, Yehonatan ^a   Gonzalez Roca, Eva ^d   Arostegui, Juan I ^d   Rechavi, Gideon ^a   Amariglio, Ninnette ^b   Salomon, Ophira ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c Maccabi Health Care Organization   (Israel)

^d INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

Autoinflammatory; Fever; FMF; JAK2; MEFV; Mosaicism; Myelofibrosis; Polycythemia vera; Somatic mutation

Indexed keywords

ACETYLSALICYLIC ACID; ARGININE; CD3 ANTIGEN; COLCHICINE; CRYOPYRIN; CYTOKINE RECEPTOR; CYTOPLASM PROTEIN; DNA; HISTIDINE; JANUS KINASE 2; MEVALONATE KINASE; TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 1A; UNCLASSIFIED DRUG; ANTIGOUT AGENT; CYTOSKELETON PROTEIN; JAK2 PROTEIN, HUMAN; MEFV PROTEIN, HUMAN; PYRIN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEEK CELL; DISEASE ASSOCIATION; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; FLUORESCENCE ACTIVATED CELL SORTING; GENE; GENETIC ANALYSIS; GENETIC VARIABILITY; GERM LINE; HEMATOPOIETIC CELL; HETEROZYGOSITY; HUMAN; HUMAN CELL; KIDNEY TUBULE; MEFV GENE; MIDDLE AGED; MONONUCLEAR CELL; MVK GENE; MYELOFIBROSIS; NLRP3 GENE; PHENOTYPE; PHLEBOTOMY; POLYCYTHEMIA VERA; POLYMORPHONUCLEAR CELL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SOMATIC MUTATION; TNFRSF1A GENE; TREATMENT OUTCOME; BIOPSY; CELL CLONE; GENETICS; MUTATION; PRIMARY MYELOFIBROSIS;

BIOPSY; CLONE CELLS; COLCHICINE; CYTOSKELETAL PROTEINS; EXONS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GOUT SUPPRESSANTS; HUMANS; JANUS KINASE 2; MIDDLE AGED; MUTATION; POLYCYTHEMIA VERA; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRIMARY MYELOFIBROSIS; PYRIN;

EID: 84937557830     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0298-6     Document Type: Article

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