A partial form of recessive STAT1 deficiency in humans

Journal of Clinical Investigation

Volumn 119, Issue 6, 2009, Pages 1502-1514

  Chapgier, Ariane ^a,b   Kong, Xiao Fei ^a,b,c,d   Boisson Dupuis, Stéphanie ^a,b,d   Jouanguy, Emmanuelle ^a,b,c,d   Averbuch, Diana ^e   Feinberg, Jacqueline ^a,b   Zhang, Shen Ying ^a,b,c,d   Bustamante, Jacinta ^a,b   Vogt, Guillaume ^a,b   Lejeune, Julien ^a,b   Mayola, Eleonore ^a,b   De Beaucoudrey, Ludovic ^a,b   Abel, Laurent ^a,b,d   Engelhard, Dan ^e   Casanova, Jean Laurent ^a,b,c,d,f  

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d ROCKEFELLER UNIVERSITY   (United States)

^e HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; BETA INTERFERON; GAMMA INTERFERON; INTERLEUKIN 27; MESSENGER RNA; STAT1 PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DISORDER; CHILD; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; STAT1 DEFICIENCY;

ALLELES; ALTERNATIVE SPLICING; AMINO ACIDS; BASE SEQUENCE; CELLS, CULTURED; FEMALE; HUMANS; INTERFERONS; MALE; MUTATION; PEDIGREE; RNA, MESSENGER; SIBLINGS; STAT1 TRANSCRIPTION FACTOR;

EID: 67651007827     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI37083     Document Type: Article

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