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

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

doi:10.1182/blood-2015-11-679902

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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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

URL: http://dx.doi.org/10.1182/blood-2015-11-679902

DOI: 10.1182/blood-2015-11-679902

PubMed id: 27114460

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Funding

Funder reference	Funder name
	INSERM
	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 07.801	Helmholtz Center grant DZIF
ANR-10-IAHU-01	French National Research Agency (ANR) under the "Investments for the future" program
ANR-14-CE15-0006	French National Research Agency (ANR) under HGDIFD
ANR-10-LABX-62-IBEID	French National Research Agency (ANR) under Laboratoire d'Excellence Integrative Biology of Emerging Infectious Diseases
ANR-11-BSV3-005-01	French National Research Agency (ANR) under GENCMCD grant
ANR-14-RARE-0005-02	ERA-Net for Research Programmes on Rare Diseases "E-RARE EURO CMC"
PI13/1456	Ministerio de Sanidad, Spain from the Regional Development Fund-European Social Fund (FEDER-FSE)
U01AI109697	National Institute of Allergy and Infectious Diseases, National Institutes of Health

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

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