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.
journal_name
Expert Rev Clin Immunoljournal_title
Expert review of clinical immunologyauthors
Olbrich P,Freeman AFdoi
10.1080/1744666X.2018.1531704subject
Has Abstractpub_date
2018-12-01 00:00:00pages
1029-1041issue
12eissn
1744-666Xissn
1744-8409journal_volume
14pub_type
杂志文章,评审abstract:OBJECTIVES:Impairment in early B-cell development can cause a predominantly antibody deficiency with severe depletion of peripheral B-cells. Mutations in the gene encoding for Bruton's-tyrosine-kinase (BTK) and the components of the pre-B-cell receptor complex or downstream signaling molecules have been related to this...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.2016.1139451
更新日期:2016-01-01 00:00:00
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
更新日期:2018-01-01 00:00:00
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
更新日期:2020-04-01 00:00:00
abstract::In current clinical practice, immune reactivity of kidney transplant recipients is estimated by monitoring the levels of immunosuppressive drugs, and by functional and/or histological evaluation of the allograft. The availability of assays that could directly quantify the extent of the recipient's immune response towa...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/eci.09.36
更新日期:2009-09-01 00:00:00
abstract::Urticaria is a common and often debilitating dermatological condition defined by the sudden appearance of wheals, angioedema or both. It is further classified into specific subtypes based on duration and specific triggers. Awareness and understanding of urticaria are important to ensure a correct initial diagnosis and...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2015.993971
更新日期:2015-02-01 00:00:00
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
更新日期:2010-07-01 00:00:00
abstract::Atherosclerosis is the major cause of cardiovascular disease (CVD), which represents the major cause of death. During recent years, it has become clear that atherosclerosis is a chronic inflammatory condition where immunity could play an important role. Usually, it is when atherosclerotic plaques rupture that CVD foll...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2015.993970
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Allergic diseases are among the most common diseases in humans. Besides allergen avoidance, allergen-specific immunotherapy is the only causative treatment option. During recent years, many innovations of this therapy have emerged. METHODS:Selective literature research in Medline and PubMed, under the inclu...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,meta分析,评审
doi:10.1586/eci.13.25
更新日期:2013-05-01 00:00:00
abstract::The course of inflammatory bowel diseases is heterogeneous and varies over time. Therefore, the search for predictive factors has increasingly become the focus of research. Mucosal healing has emerged as an important objective, as evidence indicates that it is associated with improved disease outcome. Nevertheless, ma...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2013.824675
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVES:Methylation pattern of gene modification is essential for the differentiation of T regulatory cells (Tregs) and 5-Aza-2'-deoxycytidine is a common inhibitor of methylation. This study aimed to investigate the potential effects of Treg polarizing conditions and 5-Aza-2'-deoxycytidine treatment in the differen...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1080/1744666X.2020.1866987
更新日期:2021-01-13 00:00:00
abstract::The term refractory lupus nephritis is generally used to indicate cases that do not respond to traditional treatment. However, the clinical presentation of lupus nephritis is variable and the time to response depends on the typology of the underlying renal syndrome. The criteria and the time for response are different...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2015.990883
更新日期:2015-02-01 00:00:00
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
更新日期:2009-11-01 00:00:00
abstract::Metabolic syndrome is a highly atherogenic state in which hyperglycemia, dyslipidemia and hypertension cluster in one individual. Intra-abdominal visceral fat accumulation plays a key role in the development of these disorders and the occurrence of metabolic syndrome. We have investigated adipocyte functions intensive...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.3.1.39
更新日期:2007-01-01 00:00:00
abstract::Immunology, similar to other areas of clinical science, is a data-rich discipline that involves a great deal of interaction between healthcare professionals and their patients. The focus of this editorial is to review the challenges and opportunities for mobile healthcare applications within immunology. It is clear th...
journal_title:Expert review of clinical immunology
pub_type: 社论,评审
doi:10.1586/1744666X.2015.1010518
更新日期:2015-04-01 00:00:00
abstract::Eosinophilic esophagitis (EoE) represents a prevalent chronic esophageal disorder. Since the condition was first described, its pathophysiology has been known to have an immune-allergic origin, but the high response rate to dietary therapies based on feeding patients exclusively with amino acid-based elemental formula...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2014.856263
更新日期:2014-01-01 00:00:00
abstract::This article reports recent evidence on epidemiological data concerning monoclonal antibody (mAb) infusion-related anaphylaxis, as well as recent data on the correlation between mAb immunogenicity and safety profiles. Pathogenic mechanisms of mAb-related adverse reactions including hypersensitivity, IgE- and non-IgE-m...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/eci.10.90
更新日期:2011-01-01 00:00:00
abstract::Introduction: Psoriasis is a chronic autoimmune skin disease with strong genetic background and environmental triggers. Patients with psoriasis and psoriatic arthritis are at greater risk of developing other chronic and potentially severe comorbidities, such as psoriatic arthritis, hyperlipidemia, type 2 diabetes mell...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1080/1744666X.2019.1700113
更新日期:2020-01-01 00:00:00
abstract:INTRODUCTION:Adalimumab, an inhibitor of tumor necrosis factor-alpha (TNFα), is the only systemic non-corticosteroid agent which has been approved by the US Food and Drug Administration (FDA) for the treatment of non-infectious uveitis. Areas covered: The aim of this review is to summarize the research which demonstrat...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2017.1288097
更新日期:2017-03-01 00:00:00
abstract::Introduction: Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease, which affects joints as well as extra-articular tissues. In the last decades, increasing targeted therapeutic options dramatically improved RA management by doubling the rate of patients achieving clinical remission. Currently, there is...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2020.1686976
更新日期:2019-12-01 00:00:00
abstract::Over the past few years, the therapeutic potential of Treg has been highlighted in the field of autoimmune diseases and after allogeneic transplantation. The first hurdle for the therapeutic use of Treg is their insufficient numbers in non-manipulated individuals, in particular when facing strong immune activation and...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.2014.943191
更新日期:2014-09-01 00:00:00
abstract:INTRODUCTION:Allergic rhinitis (AR) is among the most common chronic conditions affecting both children and adults. It is the cause of significant morbidity from the symptoms and interference with sleep. It results in major impairment of performance both at school and at work. In the U.S. and certain parts of Europe, r...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2018.1538788
更新日期:2018-12-01 00:00:00
abstract::Although a large part of the population suffers from allergies, a cure is not yet available. Allergen-specific immunotherapy (AIT) offers promise for these patients. AIT has proven successful in insect and venom allergies; however, for food allergy this is still unclear. In this editorial we focus on the recent advanc...
journal_title:Expert review of clinical immunology
pub_type: 社论,评审
doi:10.1586/1744666X.2016.1103182
更新日期:2016-01-01 00:00:00
abstract::Graft-versus-host disease (GVHD) remains a significant complication that greatly enhances morbidity and mortality associated with hematopoietic stem cell transplantation. Key immunoregulatory molecules have been implicated in the pathogenesis of GVHD, but the mechanisms by which these molecules affect the incidence an...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/eci.09.44
更新日期:2009-09-01 00:00:00
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
更新日期:2015-01-01 00:00:00
abstract::Many immune regulators are now identified as having key roles at the embryo-maternal interface. Importantly, a cohort of cytokines, chemokines and growth factors are produced by the endometrial glands and secreted into the uterine cavity where they act both on the blastocyst and on the endometrial surface, changing ad...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/eci.11.65
更新日期:2011-11-01 00:00:00
abstract::The 12/15-lipoxygenase (LO) cascade governs the generation of 12-hydroperoxy-eicosatetraenoic acid (HPETE) and 15-HPETE from arachidonic acid. The 5-LO pathway plays a fundamental role in the biosynthesis of leukotrienes, essential inflammatory lipid mediators. Cyclooxygenase (COX)-1 and -2 biosynthetic pathways are r...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.2.4.649
更新日期:2006-07-01 00:00:00
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
更新日期:2006-05-01 00:00:00
abstract::Evolving data have shown that the toll like receptors (TLRs) family of innate immune receptors has an important role in driving the activation and inhibition of pathogenic pathways involved in multiple sclerosis (MS). While developing clinical trials targeting MS by TLRs modulators are of considerable interest, severa...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2014.953061
更新日期:2014-10-01 00:00:00
abstract::Giant cell arteritis is a complex immune-mediated disease that involves large blood vessels in individuals older than 50 years. Recent studies have confirmed a strong association of this form of vasculitis with the HLA region, particularly with HLA class II genes. However, other non-HLA loci, such as protein tyrosine ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2016.1089173
更新日期:2016-01-01 00:00:00
abstract::Asthma is a chronic disease that affects millions of individuals living in the USA. Proper asthma management is essential for controlling asthma symptoms and exacerbations. In recent years, however, there has been increased recognition of individuals using complementary and alternative medicine (CAM) to treat asthma. ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.4.6.703
更新日期:2008-11-01 00:00:00