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

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

Enlarged Memory T-Cell Pool and Enhanced Th1-Type Responses in Chronic Myeloid Leukemia Patients Who Have Successfully Discontinued IFN-α Monotherapy

(2014) Mette Ilander et al.   PLoS One

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

(2013) S. C. C. Chiang et al.   BLOOD

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders

(2013) James W. Verbsky et al.   CURRENT OPINION IN PEDIATRICS

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia

(2012) A. Jerez et al.   BLOOD

JAK and STAT Signaling Molecules in Immunoregulation and Immune-Mediated Disease

(2012) John J. O'Shea et al.   IMMUNITY

STAT3 mutations are highly specific for large granular lymphocytic leukemia

(2012) A Fasan et al.   LEUKEMIA

SomaticSTAT3Mutations in Large Granular Lymphocytic Leukemia

(2012) Hanna L.M. Koskela et al.   NEW ENGLAND JOURNAL OF MEDICINE

Regulation of CD4+ T-cell polarization by suppressor of cytokine signalling proteins

(2011) Camille A. Knosp et al.   IMMUNOLOGY

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Rapid assessment of in vitro expanded human regulatory T cell function

(2011) Joyce J. Ruitenberg et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Opposing regulation of the locus encoding IL-17 through direct, reciprocal actions of STAT3 and STAT5

(2011) Xiang-Ping Yang et al.   NATURE IMMUNOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

(2010) Naomi J. Lohr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mendelian susceptibility to mycobacterial disease

(2010) LE Cottle   CLINICAL GENETICS

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

FAS-L, IL-10, and double-negative CD4-CD8- TCR  / + T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

(2009) A. Magerus-Chatinet et al.   BLOOD

Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

(2009) Yoshiyuki Minegishi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE