Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Immunity

Volumn 42, Issue 6, 2015, Pages 1185-1196

  Oftedal, Bergithe E ^a   Hellesen, Alexander ^a,b   Erichsen, Martina M ^b   Bratland, Eirik ^a   Vardi, Ayelet ^c   Perheentupa, Jaakko ^d   Kemp, E Helen ^e   Fiskerstrand, Torunn ^a,b   Viken, Marte K ^f   Weetman, Anthony P ^e   Fleishman, Sarel J ^c   Banka, Siddharth ^g,h   Newman, William G ^g,h   Sewell, W A C ⁱ   Sozaeva, Leila S ^j   Zayats, Tetyana ^a   Haugarvoll, Kristoffer ^b   Orlova, Elizaveta M ^j   Haavik, Jan ^a   Johansson, Stefan ^a,b   Knappskog, Per M ^a,b   Løvås, Kristian ^a,b   Wolff, Anette S B ^a   Abramson, Jakub ^c   Husebye, Eystein S ^a,b   more..

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^d UNIVERSITY OF HELSINKI   (Finland)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

ⁱ SCUNTHORPE GENERAL HOSPITAL   (United Kingdom)

^j ENDOCRINOLOGY RESEARCH CENTRE   (Russian Federation)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; CYANOCOBALAMIN; INTERLEUKIN 17F; INTRINSIC FACTOR; APECED PROTEIN; MICROSATELLITE REPEATS; TRANSCRIPTION FACTORS;

ADRENAL INSUFFICIENCY; ADULT; ALLELE; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BINDING SITE; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; DOMINANT INHERITANCE; EXOME; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; NAIL DYSTROPHY; PENETRANCE; PERNICIOUS ANEMIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; VITAMIN BLOOD LEVEL; WILD TYPE; ADOLESCENT; AMINO ACID SEQUENCE; AUTOIMMUNITY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; GENETICS; HUMANS; MALE; METHODS; MOLECULAR SEQUENCE DATA; MUTATION; NORWAY; ORGAN SPECIFICITY; PEDIGREE; POLYENDOCRINOPATHIES, AUTOIMMUNE; RUSSIA; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AUTOIMMUNITY; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, DOMINANT; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; NORWAY; ORGAN SPECIFICITY; PEDIGREE; PENETRANCE; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; RUSSIA; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84937598338     PISSN: 10747613     EISSN: 10974180     Source Type: Journal    
DOI: 10.1016/j.immuni.2015.04.021     Document Type: Article

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