Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Blood, 127, 25, S. 3154-3164

Classification: Medizin, Gesundheit

Event: Veröffentlichung

(where): Augsburg

(who): Universität Augsburg, American Society of Hematology

(when): 2016

Creator: Toubiana, Julie
Okada, Satoshi
Hiller, Julia
Oleastro, Matias
Lagos Gomez, Macarena
Aldave Becerra, Juan Carlos
Ouachée-Chardin, Marie
Fouyssac, Fanny
Girisha, Katta Mohan
Etzioni, Amos
Van Montfrans, Joris
Camcioglu, Yildiz
Kerns, Leigh Ann
Belohradsky, Bernd
Blanche, Stéphane
Bousfiha, Aziz
Rodriguez-Gallego, Carlos
Meyts, Isabelle
Kisand, Kai
Reichenbach, Janine
Renner, Ellen
Rosenzweig, Sergio
Grimbacher, Bodo
van de Veerdonk, Frank L.
Traidl-Hoffmann, Claudia
Picard, Capucine
Marodi, Laszlo
Morio, Tomohiro
Kobayashi, Masao
Lilic, Desa
Milner, Joshua D.
Holland, Steven
Casanova, Jean-Laurent
Puel, Anne

DOI: 10.1182/blood-2015-11-679902

URN: urn:nbn:de:bvb:384-opus4-824131

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:41 PM CET

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Associated

Toubiana, Julie
Okada, Satoshi
Hiller, Julia
Oleastro, Matias
Lagos Gomez, Macarena
Aldave Becerra, Juan Carlos
Ouachée-Chardin, Marie
Fouyssac, Fanny
Girisha, Katta Mohan
Etzioni, Amos
Van Montfrans, Joris
Camcioglu, Yildiz
Kerns, Leigh Ann
Belohradsky, Bernd
Blanche, Stéphane
Bousfiha, Aziz
Rodriguez-Gallego, Carlos
Meyts, Isabelle
Kisand, Kai
Reichenbach, Janine
Renner, Ellen
Rosenzweig, Sergio
Grimbacher, Bodo
van de Veerdonk, Frank L.
Traidl-Hoffmann, Claudia
Picard, Capucine
Marodi, Laszlo
Morio, Tomohiro
Kobayashi, Masao
Lilic, Desa
Milner, Joshua D.
Holland, Steven
Casanova, Jean-Laurent
Puel, Anne
Universität Augsburg, American Society of Hematology

Time of origin

2016

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

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Other Objects (12)

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

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Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2

Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations

Biological drivers of clinical phenotype in myelofibrosis

No evidence for genotype-phenotype correlation in NPHS1 and NPHS2 mutations

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LRBA deficiency : clinical phenotype, biological pathomechanism and murine model

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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Immunology, phenotype first : how mutations have established new principles and pathways in immunology

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences

Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2

Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations

Biological drivers of clinical phenotype in myelofibrosis

No evidence for genotype-phenotype correlation in NPHS1 and NPHS2 mutations

Genotype phenotype relations in patient derived point mutations in collagen II

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome

LRBA deficiency : clinical phenotype, biological pathomechanism and murine model

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Immunology, phenotype first : how mutations have established new principles and pathways in immunology

Biallelic mutations in TMEM126B cause severe complex i deficiency with a variable clinical phenotype

JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences

Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2

Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations

Biological drivers of clinical phenotype in myelofibrosis

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