Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

Blood

Volumn 125, Issue 4, 2015, Pages 639-648

  Haapaniemi, Emma M ^a   Kaustio, Meri ^b   Rajala, Hanna L M ^b   Van Adrichem, Arjan J ^b   Kainulainen, Leena ^c   Glumoff, Virpi ^d   Doffinger, Rainer ^e   Kuusanmäki, Heikki ^b   Heiskanen Kosma, Tarja ^f   Trotta, Luca ^b   Chiang, Samuel ^g   Kulmala, Petri ^d   Eldfors, Samuli ^b   Katainen, Riku ^h   Siitonen, Sanna ⁱ   Karjalainen Lindsberg, Marja Liisa ⁱ   Kovanen, Panu E ⁱ   Otonkoski, Timo ^b,j   Porkka, Kimmo ^b   Heiskanen, Kaarina ^j   Hänninen, Arno ^k   Bryceson, Yenan T ^g   Uusitalo Seppälä, Raija ^l   Saarela, Janna ^b   Seppänen, Mikko ⁱ   Mustjoki, Satu ^b   Kere, Juha ^a,g   more..

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

^d OULU UNIVERSITY HOSPITAL   (Finland)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f KUOPIO UNIVERSITY HOSPITAL   (Finland)

^g KAROLINSKA INSTITUTE   (Sweden)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^k UNIVERSITY OF TURKU   (Finland)

^l SATAKUNTA CENTRAL HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; STAT1 PROTEIN; STAT3 PROTEIN; STAT5B PROTEIN; STAT3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNITY; CASE REPORT; CELL DIFFERENTIATION; CELL MATURATION; COMPUTER ASSISTED TOMOGRAPHY; CYTOKINE PRODUCTION; DENDRITIC CELL; DIMERIZATION; DNA BINDING; DNA EXTRACTION; EOSINOPENIA; FEMALE; GENE MUTATION; HEMATOPOIETIC CELL; HUMAN; IMMUNOGLOBULIN DEFICIENCY; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; IPEX SYNDROME; LARGE GRANULAR LYMPHOCYTE LEUKEMIA; LYMPHOCYTE PROLIFERATION; MYCOBACTERIOSIS; NATURAL KILLER CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REGULATORY T LYMPHOCYTE; RNA EXTRACTION; SUBSTITUTION THERAPY; TH17 CELL; TRANSCRIPTION INITIATION; YOUNG ADULT; AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; AUTOIMMUNE DISEASE; B LYMPHOCYTE; CLINICAL TRIAL; GENETIC DISORDER; GENETICS; IMMUNOLOGY; MISSENSE MUTATION; PATHOLOGY; PROTEIN TERTIARY STRUCTURE;

ADOLESCENT; ADULT; AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; AUTOIMMUNE DISEASES; B-LYMPHOCYTES; CELL DIFFERENTIATION; DENDRITIC CELLS; FEMALE; GENETIC DISEASES, INBORN; HUMANS; KILLER CELLS, NATURAL; LEUKEMIA, LARGE GRANULAR LYMPHOCYTIC; MUTATION, MISSENSE; MYCOBACTERIUM INFECTIONS; PROTEIN STRUCTURE, TERTIARY; STAT3 TRANSCRIPTION FACTOR; T-LYMPHOCYTES, REGULATORY; TH17 CELLS;

EID: 84921494433     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-04-570101     Document Type: Article

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