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. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations. METHODS:Samples from patients with antibody deficiency were analyzed to determine BTK expression, immunophenotyping and mutation analysis. Clinical and laboratory data was analyzed and presented for each patient. RESULTS:Most patients presented here showed atypical clinical and laboratory data for XLA, including normal IgM, IgG, or IgA levels. Most patients expressed detectable BTK protein. Sequencing of BTK showed that these patients harbored missense mutations in the pleckstrin homology and Src-homology-2 domains. When it was compared to public databases, BTK sequencing exhibited a new change, along with three other previously reported changes. CONCLUSIONS:Delayed diagnosis and atypical manifestations in XLA might be related to mutation type and BTK expression.
journal_name
Expert Rev Clin Immunoljournal_title
Expert review of clinical immunologyauthors
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,Sancdoi
10.1080/1744666X.2018.1413349subject
Has Abstractpub_date
2018-01-01 00:00:00pages
83-93issue
1eissn
1744-666Xissn
1744-8409journal_volume
14pub_type
杂志文章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::Inflammatory bowel diseases share common pathogenetic mechanisms that are not yet completely understood. It is clear, however, that the expression and production of cytokines in response to inflammation plays a key role in mediating the migration of activated leukocytes. The process of angiogenesis and the expression ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/eci.10.40
更新日期:2010-07-01 00:00:00
abstract:INTRODUCTION:In primary immunodeficiency (PID), immunoglobulin replacement therapy (IgRT) for infection prevention is well-established and supported by a wealth of clinical data. On the contrary, very little evidence-based data is available on the challenges surrounding the use of IgRT in secondary immune deficiencies ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2016.1208085
更新日期:2016-09-01 00:00:00
abstract::In adulthood, new or recurrent asthma is caused by work in approximately 10% of cases. The term occupational asthma is reserved for those cases arising from respiratory hypersensitivity to a specific workplace agent; in others (work-exacerbated asthma) the mechanism is of nonspecific airway irritation on a background ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.1.1.123
更新日期:2005-05-01 00:00:00
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
更新日期:2019-02-01 00:00:00
abstract::Autoimmune diseases are caused by pathogenic antibody and/or T-cell responses that are left unchecked by regulatory immune mechanisms. Recent studies in immunology have focused on subsets of regulatory T cells (T(regs)) that can suppress autoimmune responses. Invariant natural killer T (iNKT) cells are a subset of T(r...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.2.5.745
更新日期:2006-09-01 00:00:00
abstract:INTRODUCTION:Highly sensitized patients awaiting a kidney transplant accrue on the transplant waiting list. The breadth of HLA antibodies in this subpopulation of patients precludes receiving a compatible organ offer through regular allocation within an acceptable time-frame. Areas covered: Several alternative options ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2018.1498335
更新日期:2018-08-01 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::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::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
更新日期:2014-09-01 00:00:00
abstract::Since its introduction to the antirejection armamentarium in 1994, tacrolimus has become the workhorse of transplant professionals for avoidance of solid organ transplant rejection. Not only does tacrolimus have potent immunosuppressive qualities that prevent rejection, but dosing is straight forward and it is general...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2016.1123093
更新日期:2016-01-01 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: The metabolic syndrome (MetS) is now recognized as a chronic proinflammatory and prothrombotic state that aggravates insulin resistance, oxidative injury, and cardiovascular risk. MetS is more prevalent in patients with systemic lupus erythematosus (SLE), a prototype of systemic autoimmune disease associ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2019.1620601
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:Biological drugs, mainly interleukin (IL)-1 and IL-6 antagonists, but also tumor necrosis factor (TNF) inhibitors, have been used in the treatment of adult onset Still's disease patients (AOSD). METHODS:We summarised the available evidence for the effectiveness of biologic drugs in AOSD. A systematic review...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,meta分析,评审
doi:10.1080/1744666X.2017.1375853
更新日期:2017-11-01 00:00:00
abstract::Respiratory diseases, such as asthma and chronic obstructive pulmonary disease (COPD), are a major health burden on society and current treatment modalities for these diseases have not significantly changed over the past 40 years. The only major pharmacological advancement for the treatment of these diseases has been ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/1744666X.3.3.365
更新日期:2007-05-01 00:00:00
abstract::Glucocorticoids are indispensable for the treatment of systemic inflammatory diseases such as rheumatoid arthritis (RA), though their beneficial effects have to be balanced with potential complications arising from high doses, prolonged use or dose splitting. A glucocorticoid formulation (modified-release prednisone) ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/eci.11.95
更新日期:2012-02-01 00:00:00
abstract::Ovarian cancer is the leading cause of death from gynecologic malignancy in the United States. While the treatment options have improved with conventional cytotoxic chemotherapy and advanced surgical techniques, disease recurrence is common and fatal in nearly all cases. Current evidence suggests that the immune syste...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2016.1147957
更新日期:2016-06-01 00:00:00
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
更新日期:2008-09-01 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: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
更新日期:2018-11-01 00:00:00
abstract::Agammaglobulinemias are primary (inherited) immunodeficiencies characterized by the lack of functional B-cells and antibodies, and are caused by mutations in genes encoding components of the pre-B-cell or B-cell receptor, or their signaling pathways. The known genetic defects do not account for all agammaglobulinemic ...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2013.850030
更新日期:2013-12-01 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::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::The use of antibiotics to treat pathogenic bacterial infections has been one of the greatest contributions to human health, yet antibiotic use also perturbs the communities of commensal and symbiotic bacteria that reside in the intestine of mammals. The microbiota are critical for normal immune development and for mai...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2013.851603
更新日期:2013-11-01 00:00:00
abstract:INTRODUCTION:Psoriasis is a complex disease in which the alteration of the IL-23/Th17 axis appears to be crucial for its pathogenic mechanisms, and anti-IL17 agents are rapidly becoming important therapeutic tools. Brodalumab, a fully human Chinese hamster ovary cell-derived immunoglobulin G2 (IgG2) anti-IL-17RA monocl...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2016.1246957
更新日期:2016-12-01 00:00:00
abstract::The past decade has been an exciting period for clinical research and patient care in rheumatoid arthritis. This is mostly due to targeted biologic agents that have changed the outcome of this disease. Certolizumab pegol (Cimzia(®), UCB Inc., GA, USA), which targets TNF-α with a different mechanism of action than wide...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/eci.10.69
更新日期:2010-11-01 00:00:00
abstract::Thymic stromal lymphopoietin (TSLP) is an IL-7-related cytokine expressed predominantly by barrier epithelial cells. TSLP is a potent activator of several cell types, including myeloid-derived dendritic cells, monocytes/macrophages and mast cells. Recent studies have revealed an important role for TSLP in the initiati...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章
doi:10.1586/eci.09.45
更新日期:2009-09-01 00:00:00
abstract::Methotrexate (MTX) is the key treatment in juvenile idiopathic arthritis (JIA). Nevertheless, MTX is not always sufficiently efficacious and can lead to adverse effects, which compromises complete disease control. In such cases, combination therapies with biologicals are given, even at MTX start, before knowing the pa...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2014.916617
更新日期:2014-07-01 00:00:00
abstract:INTRODUCTION:Rheumatoid arthritis (RA) is a complex disease in which different mechanisms are involved. Studies suggest a key role for aberrant pathways of T-cell activation in the initiation and perpetuation of disease. Abatacept is a fusion protein composed of the Fc region of the immunoglobulin G1 (IgG1) fused to th...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1080/1744666X.2019.1579642
更新日期:2019-04-01 00:00:00
abstract::Non-immediate drug reactions (NIR) are induced by specific immunological mechanisms and involve the recognition of hapten molecules by the immune system, with the participation of dendritic cells and other antigen-presenting cells. This process is followed by an effector response that can induce several clinical entit...
journal_title:Expert review of clinical immunology
pub_type: 杂志文章,评审
doi:10.1586/1744666X.2014.966691
更新日期:2014-11-01 00:00:00