Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mechanism of homodimeric cytokine receptor activation and dysregulation by oncogenic mutations

(2020) Stephan Wilmes et al.   SCIENCE

Structural and functional consequences of the STAT5BN642H driver mutation

(2019) Elvin D. de Araujo et al.   Nature Communications

JAK2ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera

(2019) Ami B Patel et al.   BLOOD

Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function

(2019) Alexander Vargas-Hernández et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations

(2019) Elvin D. de Araujo et al.   Cancers

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)

(2019) Laura Ramírez et al.   GROWTH HORMONE & IGF RESEARCH

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

(2018) Jürgen Klammt et al.   Nature Communications

Primary Immunodeficiencies Unravel the Role of IL-2/CD25/STAT5b in Human Natural Killer Cell Maturation

(2018) María Soledad Caldirola et al.   Frontiers in Immunology

STAT5B deficiency due to a novel missense mutation in the coiled-coil domain

(2018) Meghan J. Acres et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

(2018) Eleonora Gambineri et al.   Frontiers in Immunology

STAT5B: A Differential Regulator of the Life and Death of CD4+Effector Memory T Cells

(2017) Sonia S. Majri et al.   JOURNAL OF IMMUNOLOGY

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

(2017) Lena F Schimke et al.   JOURNAL OF INFECTIOUS DISEASES

Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia

(2016) K. Kapralova et al.   BLOOD

A novel dominant negative mutation in the intracellular domain ofGHRis associated with growth hormone insensitivity

(2016) Masaki Takagi et al.   CLINICAL ENDOCRINOLOGY

Signal transducer and activator of transcription 5 (STAT5) paralog dose governs T cell effector and regulatory functions

(2016) Alejandro Villarino et al.   eLife

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms

(2015) J. D. Milosevic Feenstra et al.   BLOOD

Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort

(2015) Maria L. Randi et al.   BRITISH JOURNAL OF HAEMATOLOGY

Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features

(2015) Liliana Bezrodnik et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma

(2015) Lu Jiang et al.   NATURE GENETICS

Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK–STAT pathway in Sézary syndrome

(2015) Mark J. Kiel et al.   Nature Communications

Activating mutations of STAT5B and STAT3 in lymphomas derived from γδ-T or NK cells

(2015) Can Küçük et al.   Nature Communications

Activating STAT6 mutations in follicular lymphoma

(2014) M. Yildiz et al.   BLOOD

Mechanism of Activation of Protein Kinase JAK2 by the Growth Hormone Receptor

(2014) A. J. Brooks et al.   SCIENCE

A novel germlineJAK2mutation in familial myeloproliferative neoplasms

(2013) Elisa Rumi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells

(2013) Jennifer A. Jenks et al.   CLINICAL IMMUNOLOGY

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

(2013) M.J.E. Walenkamp et al.   Hormone Research in Paediatrics

Dynamic trafficking of STAT5 depends on an unconventional nuclear localization signal

(2013) H. Y. Shin et al.   JOURNAL OF CELL SCIENCE

JAKs and STATs in Immunity, Immunodeficiency, and Cancer

(2013) John J. O'Shea et al.   NEW ENGLAND JOURNAL OF MEDICINE

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

(2012) J.M. Wit et al.   Hormone Research in Paediatrics

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY

A Novel Missense Mutation in the SH2 Domain of theSTAT5BGene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

(2012) Paula A. Scaglia et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GermlineJAK2Mutation in a Family with Hereditary Thrombocytosis

(2012) Adam J. Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

STAT5b deficiency: Lessons from STAT5b gene mutations

(2011) Vivian Hwa et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

(2011) Alessia David et al.   ENDOCRINE REVIEWS

The Growth Hormone Receptor (GHR)c.899dupCMutation Functions as a Dominant Negative: Insights into the Pathophysiology of IntracellularGHRDefects

(2011) Michael A. Derr et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

(2011) Kari Nadeau et al.   JOURNAL OF PEDIATRICS

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

(2010) Patricia N Pugliese-Pires et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

(2010) Javier Aisenberg et al.   Hormone Research in Paediatrics

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

(2010) Lena F. Schimke et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Lysine Acetylation Targets Protein Complexes and Co-Regulates Major Cellular Functions

(2009) C. Choudhary et al.   SCIENCE

Quantitative Phosphoproteomic Analysis of T Cell Receptor Signaling Reveals System-Wide Modulation of Protein-Protein Interactions

(2009) V. Mayya et al.   Science Signaling

Immune Dysregulation in Primary Immunodeficiency Disorders

(2008) Troy R. Torgerson   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

(2008) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Kinase-Selective Enrichment Enables Quantitative Phosphoproteomics of the Kinome across the Cell Cycle

(2008) Henrik Daub et al.   MOLECULAR CELL

Frequency and clinical features of theJAK2V617F mutation in pediatric patients with sporadic essential thrombocythemia

(2008) Takuya Nakatani et al.   PEDIATRIC BLOOD & CANCER