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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients

Lookup NU author(s): Dr Desa Lilic


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Publication metadata

Author(s): Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova J-L, Puel A, on behalf of the International STAT1-GOF study group

Publication type: Article

Publication status: Published

Journal: Blood

Year: 2016

Volume: 127

Issue: 25

Pages: 3154-3164

Print publication date: 01/06/2016

Online publication date: 25/04/2016

Acceptance date: 01/04/2016

Date deposited: 06/05/2016

ISSN (print): 0006-4971

ISSN (electronic): 1528-0020

Publisher: American Society of Hematology


DOI: 10.1182/blood-2015-11-679902

PubMed id: 27114460


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Funder referenceFunder name
Jeffrey Modell Centers Network
Jeffrey Modell Foundation-Translational Research Program
Rockefeller University
Gebert Ruf Stiftung-programme Rare Diseases-New Approaches, EUFP7 CELL-PID, EUFP7 NET4CGD, ZIHP
St. Giles Foundation
University Paris Descartes
8000805-3_TTU_IICH 07.801Helmholtz Center grant DZIF
ANR-10-IAHU-01French National Research Agency (ANR) under the "Investments for the future" program
ANR-14-CE15-0006French National Research Agency (ANR) under HGDIFD
ANR-10-LABX-62-IBEIDFrench National Research Agency (ANR) under Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases
ANR-11-BSV3-005-01French National Research Agency (ANR) under GENCMCD grant
ANR-14-RARE-0005-02ERA-Net for Research Programmes on Rare Diseases "E-RARE EURO CMC"
PI13/1456Ministerio de Sanidad, Spain from the Regional Development Fund-European Social Fund (FEDER-FSE)
U01AI109697National Institute of Allergy and Infectious Diseases, National Institutes of Health