STAT1 and STAT3 mutations: important lessons for clinical immunologists.

Abstract:

INTRODUCTION:The transcription factors signal transducer and activator of transcription (STAT) 1 and STAT3 fulfill fundamental functions in nonimmune and immune cells. The description and follow-up of patients with germline mutations that result in either loss-of-function or gain-of-function have contributed to our understanding of the pathophysiology of these regulators. Depending on the type of mutations, clinical symptoms are complex and can include infection susceptibility, immune dysregulation as well as characteristic nonimmune features. Areas covered: In this review, we provide an overview about mechanistic concepts, clinical manifestations, diagnostic process, and traditional as well as innovative treatment options aiming to help the clinical immunologist to better understand and manage these complex and rare diseases. Clinical and research papers were identified and summarized through PubMed Internet searches, and expert opinions are provided. Expert commentary: The last several years have seen an explosion in the clinical descriptions and pathogenesis knowledge of the diseases caused by GOF and LOF mutations in STAT1 and STAT3. However, harmonization of laboratory testing and follow-up in international cohorts is needed to increase our knowledge about the natural history of these disorders as well as the development of curative or supportive targeted therapies.

authors

Olbrich P,Freeman AF

doi

10.1080/1744666X.2018.1531704

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

1029-1041

issue

12

eissn

1744-666X

issn

1744-8409

journal_volume

14

pub_type

杂志文章,评审
  • Allergies in Asia: differences in prevalence and management compared with western populations.

    abstract::There is wide variability in the epidemiology and management of childhood asthma and related atopic diseases globally. Urbanized, affluent Western countries tend to have a higher prevalence of these diseases compared with Asian nations. However, recent studies have shown that the prevalence in Asia is increasing, alth...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/eci.09.82

    authors: Gerez IF,Lee BW,van Bever HP,Shek LP

    更新日期:2010-03-01 00:00:00

  • Immunological basis of stem cell therapy in liver diseases.

    abstract::Unbalanced immune cell populations or immune cell infiltration of the liver can disrupt the immune-privileged state of the liver, resulting in liver injury or fibrosis. Therefore, the treatment for liver diseases involves not only hepatic regeneration but also immunological regulation. Recent studies demonstrated that...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/1744666X.2014.930665

    authors: Cui L,Shi Y,Han Y,Fan D

    更新日期:2014-09-01 00:00:00

  • Tofacitinib for the treatment of ulcerative colitis.

    abstract:INTRODUCTION:New generations of small molecules are being developed for the treatment of ulcerative colitis. Among them, tofatinib (a Janus kinase (JAK) inhibitor) has demonstrated efficacy for inducing and maintaining remission and achieving mucosal healing with a reasonable safety profile. Oral administration is attr...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2018.1532291

    authors: Fernández-Clotet A,Castro-Poceiro J,Panés J

    更新日期:2018-11-01 00:00:00

  • Systemic lupus erythematosus and cardiovascular disease: prediction and potential for therapeutic intervention.

    abstract::Patients with systemic lupus erythematosus have a significantly increased risk of cardiovascular events due to atherosclerosis. Traditional cardiac risk factors cannot fully explain this increased risk. Recent evidence strongly suggests that atherosclerotic plaque is largely driven by inflammation and an active immuno...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/eci.10.98

    authors: McMahon M,Hahn BH,Skaggs BJ

    更新日期:2011-03-01 00:00:00

  • Therapeutic monitoring of the immuno-modulating drugs in systemic lupus erythematosus.

    abstract:INTRODUCTION:Despite the emergence of newer immunomodulating agents for systemic lupus erythematosus (SLE), a substantial proportion of patients still do not respond optimally. While the mechanisms for the differential responses to drug therapy are unclear, variation in drug exposure with the same dosing protocol relat...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2016.1212659

    authors: Mok CC

    更新日期:2017-01-01 00:00:00

  • Treatment and monitoring of hypersensitivity pneumonitis.

    abstract:INTRODUCTION:Hypersensitivity pneumonitis (HP) is an immunologically induced lung disease that develops after inhalation of certain environmental antigens only in subjects with susceptibility to antigens. Therefore, both environmental and host immunological factors play important roles in the aetiology and pathogenesis...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2016.1182426

    authors: Miyazaki Y,Tsutsui T,Inase N

    更新日期:2016-09-01 00:00:00

  • Defining a new molecular basis of systemic lupus erythematosus through transcriptional profiling.

    abstract::Data generated using high-throughput DNA microarrays are changing the way we think about systemic lupus erythematosus (SLE). The identification of an interferon gene-expression signature in the majority of patients with SLE, especially those with severe SLE, has stimulated substantial interest in targeting the interfe...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/1744666X.3.6.913

    authors: Gaffney PM,Moser KL,Baechler EC

    更新日期:2007-11-01 00:00:00

  • The roles of myeloid-derived suppressor cells in transplantation.

    abstract::CD11b(+)Gr1(+) myeloid-derived suppressor cells (MDSCs) are an important regulatory innate cell population and have significant inhibitory effect on T cell-mediated responses. In addition to their negative role in cancer development, MDSCs also exert strong regulatory effects on transplantation and autoimmunity. In ma...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/1744666X.2014.948424

    authors: Wu T,Zhao Y,Zhao Y

    更新日期:2014-10-01 00:00:00

  • Insight into the widespread problem of nonadherence to therapy in ulcerative colitis patients.

    abstract::Ulcerative colitis is a chronic condition that requires long-term treatment. The first-line therapy remains 5-aminosalicylic acid, which is available in several different formulations and dosing schedules. Several studies have demonstrated that adherence rates to prescribed 5-aminosalicylic acid products are below tho...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/eci.10.28

    authors: Bernick SJ,Kane S

    更新日期:2010-07-01 00:00:00

  • A focus on the use of subcutaneous C1-inhibitor for treatment of hereditary angioedema.

    abstract:INTRODUCTION:HAE is a very debilitating disease that causes significant distress for patients not only during an acute attack but also constant fear for a subsequent attack. It is important to address long-term prophylactic (LTP) therapy to prevent attacks, decrease morbidity and increase the quality of life. When disc...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1080/1744666X.2020.1750953

    authors: Villavicencio MF,Craig T

    更新日期:2020-05-01 00:00:00

  • Future clinical implications emerging from recent genome-wide expression studies in asthma.

    abstract::Host susceptibility to environmental triggers is the most likely explanation for the development of asthma. Quantifying gene expression levels in disease-relevant tissues and cell types using fast evolving genomic technologies have generated new hypotheses about the pathogenesis of asthma and identified new therapeuti...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/1744666X.2014.932249

    authors: Bérubé JC,Bossé Y

    更新日期:2014-08-01 00:00:00

  • Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management.

    abstract:INTRODUCTION:Common variable immunodeficiency (CVID) comprises a large heterogeneous group of patients with primary antibody deficiency. Areas covered: The affected patients are characterized by increased susceptibility to infections and low levels of serum immunoglobulin. However, enteropathy, granulomatous organ infi...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2016.1224664

    authors: Azizi G,Abolhassani H,Asgardoon MH,Alinia T,Yazdani R,Mohammadi J,Rezaei N,Ochs HD,Aghamohammadi A

    更新日期:2017-02-01 00:00:00

  • The advent of IL-17A blockade in ankylosing spondylitis: secukinumab, ixekizumab and beyond.

    abstract:INTRODUCTION:Secukinumab, an interleukin-17A (IL-17A) antagonist, is the first non-TNF alpha inhibitor agent licensed for ankylosing spondylitis (AS), which opens up a new era of alternative cytokine targets beyond TNF. Areas covered: This review explores the pathophysiology and scientific evidence behind the use of th...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2019.1561281

    authors: Dubash S,Bridgewood C,McGonagle D,Marzo-Ortega H

    更新日期:2019-02-01 00:00:00

  • Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

    abstract:BACKGROUND:X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. S...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1080/1744666X.2018.1413349

    authors: Carrillo-Tapia E,García-García E,Herrera-González NE,Yamazaki-Nakashimada MA,Staines-Boone AT,Segura-Mendez NH,Scheffler-Mendoza SC,O Farrill-Romanillos P,Gonzalez-Serrano ME,Rodriguez-Alba JC,Santos-Argumedo L,Berron-Ruiz L,Sanc

    更新日期:2018-01-01 00:00:00

  • Discontinuation of immunoglobulin replacement therapy in patients with secondary antibody deficiency.

    abstract:INTRODUCTION:Secondary immunodeficiency is becoming a greater medical concern as the usage of immunosuppressive and biological treatments has increased. Individuals with certain medical conditions, such as hematological malignancies, can also have secondary immunodeficiency. Immunoglobulin replacement therapy (IGRT), w...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1080/1744666X.2020.1788939

    authors: Patel V,Cowan J

    更新日期:2020-07-01 00:00:00

  • Epithelial physical barrier defects in chronic rhinosinusitis.

    abstract:INTRODUCTION:Chronic rhinosinusitis (CRS) is a common upper airway disease with a prevalence of greater than 10% of the general population. Although the pathogenesis of CRS remains poorly understood, there is growing evidence indicating that epithelial physical barrier defects play an important role in CRS pathogenesis...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2019.1601556

    authors: Jiao J,Wang C,Zhang L

    更新日期:2019-06-01 00:00:00

  • Update on the role of probiotics in the therapy of pediatric inflammatory bowel disease.

    abstract::Probiotics have had many applications in the past few years, and inflammatory conditions of the GI tract--including chronic disorders such as inflammatory bowel disease (IBD)--have received the most attention by investigators. In fact, the experimental basis to expect clinical efficacy of probiotics in IBD is quite ro...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/eci.09.70

    authors: Guandalini S

    更新日期:2010-01-01 00:00:00

  • The evolution of allergen and non-specific immunotherapy: past achievements, current applications and future outlook.

    abstract::Recent epidemiological studies estimated that more than 30% of European suffer from allergic rhinitis or conjunctivitis, while up to 20% suffer from asthma and 15% from allergic skin conditions, while for many other regions the prevalence is increasing. Allergen immunotherapy represents the only available treatment th...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/1744666X.2015.977260

    authors: Pajno GB,Nadeau KC,Passalacqua G,Caminiti L,Hobson B,Jay DC,Arasi S,Chiera F,Salzano G

    更新日期:2015-01-01 00:00:00

  • Remestemcel-L for the treatment of graft versus host disease.

    abstract:INTRODUCTION:Remestemcel-L, a third-party, off-the-shelf preparation of bone-marrow derived mesenchymal stromal cells (MSCs), has been developed for experimental use in acute graft-versus-host disease (aGvHD) and other immune-mediated conditions. Several preclinical and clinical studies have indeed suggested the potent...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2016.1208086

    authors: Locatelli F,Algeri M,Trevisan V,Bertaina A

    更新日期:2017-01-01 00:00:00

  • CD4+CD25+ regulatory T-cell therapy.

    abstract::Naturally occurring CD4(+)CD25(+) regulatory T cells (Tregs) expressing forkhead transcript factor box P3 have been established as a key regulator for the control of autoimmunity. A growing body of experiments in animal models has provided compelling evidence that the adoptive transfer of CD4(+)CD25(+) Tregs can cure ...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/1744666X.2.3.387

    authors: Jiang S,Lechler RI,Lombardi G

    更新日期:2006-05-01 00:00:00

  • A review of disease activity measures for psoriatic arthritis: what is the best approach?

    abstract::The measuring tools for disease activity of rheumatoid arthritis have long been adapted for assessing the disease activity of psoriatic arthritis (PsA), particularly as regards peripheral arthritis. However, because of the multifactorial aspects and multiple domains of PsA, such as axial and peripheral joints, skin an...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/1744666X.2014.943663

    authors: Her M,Kavanaugh A

    更新日期:2014-09-01 00:00:00

  • Co-morbidity in psoriasis: mechanisms and implications for treatment.

    abstract:INTRODUCTION:Psoriasis is a common, chronic, immune-mediated inflammatory disorder. The disease is associated with several co-morbidities including cardiovascular disease, metabolic syndrome, and psychiatric disorders. It is important to identify and treat these co-morbidities because they have a strongly negative effe...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1080/1744666X.2016.1213631

    authors: Lønnberg AS,Skov L

    更新日期:2017-01-01 00:00:00

  • What is the role of rituximab in idiopathic membranous nephropathy?

    abstract::Treatment of idiopathic membranous nephropathy (IMN) is controversial. However, two randomized controlled trials (RCTs) reported that treatment with steroids alternated with an alkylating agent achieved significantly more remissions and better renal survival at 10 years in comparison with untreated controls. Short-ter...

    journal_title:Expert review of clinical immunology

    pub_type: 评论,杂志文章

    doi:10.1586/eci.12.89

    authors: Ponticelli C

    更新日期:2013-01-01 00:00:00

  • Use of rituximab in multiple sclerosis: current progress and future perspectives.

    abstract::In recent years, new insights into the immunological pathways in multiple sclerosis (MS) have been detected. This increasing knowledge has led to more distinct treatment options in modifying the disease course of MS. In 2006, natalizumab, an alpha4-integrin monoclonal antibody, introduced a new era of MS treatment. An...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/1744666X.4.5.573

    authors: Reske D,Haupt WF

    更新日期:2008-09-01 00:00:00

  • Adalimumab for the treatment of psoriatic arthritis.

    abstract::Psoriatic arthritis (PsA) is a chronic inflammatory joint disease occurring in 6-39% of patients with psoriasis. Standard therapy of PsA includes nonsteroidal anti-inflammatory drugs, intra-articular steroids and disease-modifying antirheumatic drugs. Failure of standard therapy is an indication for anti-TNF-alpha the...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/eci.09.50

    authors: Poddubnyy DA,Rudwaleit M

    更新日期:2009-11-01 00:00:00

  • Harnessing immunotherapy for pediatric T-cell malignancies.

    abstract::Pediatric T-cell hematologic malignancies are a diverse group of rare cancers. The most common pediatric T-cell malignancies include T-cell acute lymphoblastic leukemia (T-ALL) and anaplastic large cell lymphoma (ALCL). Although the overall survival rates have improved markedly in recent years, children with relapsed ...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1080/1744666X.2020.1732819

    authors: Diorio C,Teachey DT

    更新日期:2020-04-01 00:00:00

  • Novel therapies for the antiphospholipid syndrome.

    abstract::Antiphospholipid antibodies (aPL Abs) are associated with thrombosis in patients with the antiphospholipid syndrome (APS). There is strong evidence that aPL Abs are pathogenic in vivo from studies in animal models. Furthermore, there are now convincing data indicating that activation of complement is involved in those...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/1744666X.4.2.193

    authors: Pierangeli SS

    更新日期:2008-03-01 00:00:00

  • Barriers to successful transplantation of the sensitized patient.

    abstract::Antibody present in the transplant recipient that yields a positive crossmatch with donor cells has long been considered a contraindication and an absolute barrier to transplantation. However, improved methods of antibody detection and characterization have shown that some reactivity with donor cells may be inconseque...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章,评审

    doi:10.1586/eci.10.14

    authors: Zachary AA,Leffell MS

    更新日期:2010-05-01 00:00:00

  • Dendritic cell-based therapy in Type 1 diabetes mellitus.

    abstract::Dendritic cell (DC) immunotherapy is a clinical reality. Despite two decades of considerable data demonstrating the feasibility of using DCs to prolong transplant allograft survival and to prevent autoimmunity, only now are these cells entering clinical trials in humans. Type 1 diabetes is the first autoimmune disorde...

    journal_title:Expert review of clinical immunology

    pub_type: 杂志文章

    doi:10.1586/eci.09.8

    authors: Phillips B,Giannoukakis N,Trucco M

    更新日期:2009-05-01 00:00:00

  • Hematopoietic stem cell transplantation in multiple sclerosis: a review of the clinical experience and a report of an international meeting.

    abstract::Hematopoietic stem cell transplantation (HSCT), both allogeneic and autologous, has become one of the hottest topics in clinical immunology. One of the main autoimmune diseases in which HSCT has been extensively tried during the last decade is multiple sclerosis (MS). A few original papers and many anecdotal reports h...

    journal_title:Expert review of clinical immunology

    pub_type:

    doi:10.1586/eci.10.7

    authors: Karussis D,Vaknin-Dembinsky A

    更新日期:2010-05-01 00:00:00