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A Special Thank-You to Our Reviewers
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2025.02.001
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引用次数: 0
Cough Reflex Hypersensitivity as a Key Treatable Trait 咳嗽反射过敏是一种可治疗的关键特征。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.10.046
Woo-Jung Song MD, PhD , Deepti Vellaichamy Manian MD , Yeonhee Kim MD , Mengru Zhang MD , Alyn H. Morice MD
Cough reflex hypersensitivity is emerging as a key treatable trait in chronic cough and other cough-associated respiratory conditions. This review examines the neurological basis of cough, highlighting the complex interplay between peripheral and central mechanisms. The concept of cough hypersensitivity aims to address unmet clinical needs by recognizing chronic cough as a distinct disorder rather than merely a symptom. Evidence from clinical trials supports cough hypersensitivity as a treatable trait in chronic cough, with opiates, gabapentinoids, and novel P2X3 antagonists showing efficacy. Cough hypersensitivity is also relevant in conditions presenting with persistent cough, such as asthma, bronchiectasis, and idiopathic pulmonary fibrosis, though more research is needed. Recognizing cough reflex hypersensitivity as a treatable trait offers new avenues for management, particularly for patients with persistent cough despite etiology-targeted therapies. We propose redefining chronic cough as a distinct disease entity in which cough hypersensitivity is a common feature and key therapeutic target, potentially leading to better patient care and the development of novel therapies.
咳嗽反射过敏症正在成为慢性咳嗽和其他与咳嗽相关的呼吸系统疾病的主要治疗特征。这篇综述探讨了咳嗽的神经学基础,强调了外周和中枢机制之间复杂的相互作用。咳嗽超敏反应的概念旨在将慢性咳嗽视为一种独特的疾病而不仅仅是一种症状,从而满足尚未得到满足的临床需求。临床试验的证据表明,咳嗽过敏是慢性咳嗽的一种可治疗特征,阿片类药物、加巴喷丁类药物和新型 P2X3 拮抗剂均显示出疗效。咳嗽过敏症还与哮喘、支气管扩张和特发性肺纤维化等出现持续性咳嗽的疾病有关,但还需要更多的研究。认识到咳嗽反射过敏是一种可治疗的特质为治疗提供了新的途径,特别是对于那些在接受病因靶向治疗后仍有持续咳嗽症状的患者。我们建议将慢性咳嗽重新定义为一种独特的疾病实体,其中咳嗽反射过敏是其共同特征和关键治疗靶点,从而有可能带来更好的患者护理和新型疗法的开发。
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引用次数: 0
Dupilumab Efficacy and Safety in Children With Moderate to Severe Asthma and High Blood Eosinophils: A Post Hoc Analysis of VOYAGE Dupilumab治疗中重度哮喘和高血嗜酸性粒细胞儿童的疗效和安全性:一项VOYAGE事后分析
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.11.014
Daniel J. Jackson MD , Eckard Hamelmann MD , Graham Roberts MD , Leonard B. Bacharier MD , Changming Xia PhD , Rebecca Gall MD , Olivier Ledanois MD , Anna Coleman MSc , Kelsey Tawo MD , Juby A. Jacob-Nara MD , Amr Radwan MD , Paul J. Rowe MD , Yamo Deniz MD

Background

Elevated blood or tissue eosinophils are considered to characterize type 2 inflammation in children with asthma and are associated with increased exacerbation rates and worse asthma control. Dupilumab, a human mAb that blocks type 2 inflammatory drivers IL-4 and IL-13, reduced severe exacerbation rates and improved lung function versus placebo in children aged 6 to 11 years with uncontrolled moderate to severe asthma in the phase 3 LIBERTY ASTHMA VOYAGE study (NCT02948959).

Objective

To assess dupilumab efficacy and safety in children from VOYAGE with moderate to severe asthma and greater than or equal to 500 and less than 1500 blood eosinophils/μL at baseline.

Methods

Children received add-on dupilumab (100/200 mg by body weight) or matched placebo every 2 weeks for 52 weeks. We assessed annualized severe exacerbation rates, least squares mean change from baseline in prebronchodilator percent predicted FEV1, and incidence of treatment-emergent adverse events.

Results

In children with elevated baseline eosinophils (N = 174), dupilumab versus placebo significantly reduced annualized exacerbation rates by 67% (95% CI, 38%-82%; P < .001) and improved prebronchodilator percent predicted FEV1 from baseline at weeks 24 and 52 (week 24 least squares mean difference, 7.58 percentage points; 95% CI, 2.85-12.31; P = .002; week 52 least squares mean difference, 7.98 percentage points; 95% CI, 2.17-13.78; P = .007). The incidence of treatment-emergent adverse events was similar with dupilumab and placebo.

Conclusions

Dupilumab significantly reduced severe exacerbations and improved lung function in children with moderate to severe asthma and baseline blood eosinophil counts greater than or equal to 500 and less than 1500 cells/μL, with a safety profile comparable with the overall study population.
背景:血液或组织嗜酸性粒细胞升高被认为是哮喘儿童2型炎症的特征,并与加重率增加和哮喘控制恶化相关。在LIBERTY asthma VOYAGE iii期研究(NCT02948959)中,Dupilumab是一种阻断2型炎症驱动因子IL-4和IL-13的人单克隆抗体,与安慰剂相比,Dupilumab可降低6-11岁未控制的中重度哮喘患儿的严重加重率,改善肺功能。目的:这项事后分析评估了dupilumab在中重度哮喘和≥500的VOYAGE儿童中的疗效和安全性。方法:儿童每2周接受额外的dupilumab(按体重100/200 mg)或匹配的安慰剂,持续52周。我们评估了年化严重恶化率、支气管扩张剂前预测1秒用力呼气量(ppFEV1)的最小二乘平均值(LSM)与基线的变化,以及治疗中出现的不良事件的发生率。结果:在基线嗜酸性粒细胞升高的儿童(N = 174)中,dupilumab与安慰剂相比,年化恶化率显著降低67% (95% CI: 38-82%;P < 0.001)和支气管扩张剂前ppFEV1较基线在第24周和第52周改善(LSM差异[95% CI] 7.58个百分点[2.85-12.31];P = .002;7.98个百分点[2.17-13.78];P = .007)。治疗中出现的不良事件的发生率与dupilumab和安慰剂相似。结论:Dupilumab可显著减少中度至重度哮喘患儿的严重加重,改善肺功能,基线血嗜酸性粒细胞计数≥500
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引用次数: 0
Clinical monitoring of eosinophilic esophagitis using the esophageal string test 食管细线试验对嗜酸性粒细胞性食管炎的临床监测。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.12.030
Morgan Chang DO , Adelyn D. Dao BS , Ashley Worner BS, CRC , Julia Loegering BS, SCRC , Melissa Pecak BSN, CRN , Alfred D. Doyle PhD , Benjamin L. Wright MD , Shauna Schroeder MD
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引用次数: 0
Relationships Between Chronic Cough and Asthma Control and Quality of Life in Patients With Severe Asthma: A 6-Month Longitudinal Analysis 重度哮喘患者慢性咳嗽与哮喘控制及生活质量的关系:一项为期6个月的纵向分析
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2025.01.006
Hwa Young Lee MD, PhD , Youngsoo Lee MD , Seung-Eun Lee MD , Da Woon Sim MD, PhD , Noeul Kang MD , Byung-Jae Lee MD, PhD , Joo-Hee Kim MD, PhD , Sung-Yoon Kang MD, PhD , Sujeong Kim MD , Ji Hyun Oh MD , Kyoung-Hee Sohn MD, PhD , Hye-Kyung Park MD, PhD , So Ri Kim MD, PhD , Min-Hye Kim MD, PhD , Han-Ki Park MD, PhD , So-Young Park MD, PhD , Jae-Woo Kwon MD, PhD , Hae-Sim Park MD, PhD , Sang-Heon Kim MD, PhD , You Sook Cho MD, PhD , Woo-Jung Song MD, PhD

Background

The prevalence and clinical implications of chronic cough (CC) in patients with severe asthma receiving asthma treatment remain relatively unknown.

Objective

This study aimed to evaluate the relationships between CC and asthma control and quality of life (QoL) in patients with severe asthma through longitudinal analysis.

Methods

Baseline and 6-month follow-up data from the Korean Severe Asthma Registry were analyzed. CC was defined as a cough visual analog scale (VAS) score of ≥40 at both baseline and 6 months. Demographic parameters and clinical outcomes were compared between patients with severe asthma and CC and those without CC. Generalized estimating equation (GEE) analysis was performed to identify associations of CC with asthma control and QoL scores.

Results

Of the total 286 participants with severe asthma, 116 (40.6%) were defined as having CC. Patients with CC had higher baseline cough and wheeze severity VAS scores (all P < .001), poorer asthma control (P < .001), and worse QoL (Severe Asthma Questionnaire [SAQ] and Euro-QoL 5-Dimension [EQ-5D] index, all P < .001) than those without CC. During the follow-up, patients with CC were more frequently exposed to oral corticosteroids (58.6% vs 38.6%, P = .010) and experienced more frequent asthma exacerbations (48.3% vs 28.6%, P = .009) than those without CC. GEE analysis revealed that CC was independently associated with poor asthma control, lower SAQ scores, and a lower EQ-5D index after adjusting for confounders.

Conclusion

The presence of CC was associated with worse asthma control and QoL in patients with severe asthma. Further studies are warranted to better evaluate and manage CC in these patients.
背景:在接受哮喘治疗的重症哮喘患者中,慢性咳嗽(CC)的发病率和临床影响仍相对未知:本研究旨在通过纵向分析评估慢性咳嗽与重症哮喘患者的哮喘控制和生活质量(QoL)之间的关系:方法:分析韩国重症哮喘登记处的基线数据和 6 个月的随访数据。基线和 6 个月的咳嗽视觉模拟量表(VAS)评分≥40 分即为 CC。对患有重症哮喘并伴有CC的患者和不伴有CC的患者的人口统计学参数和临床结果进行了比较。通过广义估计方程(GEE)分析,确定了CC与哮喘控制和QoL评分之间的关系:在286名重症哮喘患者中,有116人(40.6%)被定义为患有CC。CC患者的基线咳嗽和喘息严重程度VAS评分较高(均为PC):CC的存在与重症哮喘患者的哮喘控制和生活质量下降有关。有必要开展进一步研究,以便更好地评估和管理这些患者的CC。
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引用次数: 0
Increased Incidence of Surgical Intervention for Otitis Media With Effusion Among Patients With Type 2 Inflammatory Diseases 2型炎症性疾病患者中耳炎伴积液的手术干预发生率增高
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.12.014
Yen-Che Wang BS , You-Cheng Yu BS , Shih-Huan Chen BS , Jen-Chih Lee MD , Tang-Chuan Wang MD, MS, PhD , Heng-Jun Lin MS , Cheng-Li Lin MS , Chun-Hsu Yao PhD , Tzu-Liang Chen MD, MS , Fuu-Jen Tsai MD, PhD , Der-Yang Cho MD, MS , Richard S. Tyler PhD

Background

Otitis media with effusion (OME) is associated with comorbidities such as allergic rhinitis, gastroesophageal reflux disease, asthma, and more. Many of these comorbidities can be caused by type 2 inflammation (T2I). This study aims to determine the risk of undergoing OME surgery in patients with and without T2I disease.

Objective

To determine whether T2I disease is associated with an increased incidence of OME surgery.

Methods

This retrospective, matched-cohort study involved the retrospective recruitment of patients with T2I disease (n = 31,603) and non-T2I disease (n = 31,603) from 2010 to 2019, using the Taiwan National Health Insurance Research Database. Statistical analyses were performed using t tests, Cox proportional regression models, Kaplan-Meier estimators, and log-rank tests.

Results

Among patients with OME, those with T2I disease had a greater risk of undergoing OME surgery, with an adjusted hazard ratio of 9.84 (95% confidence interval [CI], 8.90-10.88), than those without T2I disease. The adjusted relative risk for the number of OME surgeries in patients with T2I disease was 11.14 (95% CI, 10.30-12.05). Kaplan-Meier analysis showed consistently higher cumulative incidence curves in patients with T2I disease throughout the follow-up period (log-rank test: P < .001).

Conclusions

OME patients with T2I disease had a significantly higher incidence of undergoing surgery due to failed conservative treatment, indicating that T2I may play an important role in middle ear disorders. Further research on this topic should be considered significant and worthy of investigation.
背景:中耳炎伴积液(OME)与变应性鼻炎、胃食管反流病、哮喘等合并症有关。许多这些合并症可由2型炎症(T2I)引起。本研究旨在确定有或无T2I疾病患者接受OME手术的风险。目的:确定T2I疾病是否与OME手术发生率增加相关。​采用t检验、Cox比例回归模型、Kaplan-Meier估计和log-rank检验进行统计分析。结果:在OME患者中,T2I疾病患者接受OME手术的风险更高,校正风险比为9.84(95%可信区间[CI], 8.90-10.88)。T2I患者行OME手术次数的校正相对危险度为11.14 (95% CI, 10.30-12.05)。Kaplan-Meier分析显示T2I患者的累积发病率曲线在随访期间持续升高(log-rank检验:P < .001)。结论:OME合并T2I患者保守治疗失败后手术发生率明显增高,提示T2I可能在中耳疾患中起重要作用。对这一课题的进一步研究具有重要意义,值得深入研究。
{"title":"Increased Incidence of Surgical Intervention for Otitis Media With Effusion Among Patients With Type 2 Inflammatory Diseases","authors":"Yen-Che Wang BS ,&nbsp;You-Cheng Yu BS ,&nbsp;Shih-Huan Chen BS ,&nbsp;Jen-Chih Lee MD ,&nbsp;Tang-Chuan Wang MD, MS, PhD ,&nbsp;Heng-Jun Lin MS ,&nbsp;Cheng-Li Lin MS ,&nbsp;Chun-Hsu Yao PhD ,&nbsp;Tzu-Liang Chen MD, MS ,&nbsp;Fuu-Jen Tsai MD, PhD ,&nbsp;Der-Yang Cho MD, MS ,&nbsp;Richard S. Tyler PhD","doi":"10.1016/j.jaip.2024.12.014","DOIUrl":"10.1016/j.jaip.2024.12.014","url":null,"abstract":"<div><h3>Background</h3><div>Otitis media with effusion (OME) is associated with comorbidities such as allergic rhinitis, gastroesophageal reflux disease, asthma, and more. Many of these comorbidities can be caused by type 2 inflammation (T2I). This study aims to determine the risk of undergoing OME surgery in patients with and without T2I disease.</div></div><div><h3>Objective</h3><div>To determine whether T2I disease is associated with an increased incidence of OME surgery.</div></div><div><h3>Methods</h3><div>This retrospective, matched-cohort study involved the retrospective recruitment of patients with T2I disease (n = 31,603) and non-T2I disease (n = 31,603) from 2010 to 2019, using the Taiwan National Health Insurance Research Database. Statistical analyses were performed using <em>t</em> tests, Cox proportional regression models, Kaplan-Meier estimators, and log-rank tests.</div></div><div><h3>Results</h3><div>Among patients with OME, those with T2I disease had a greater risk of undergoing OME surgery, with an adjusted hazard ratio of 9.84 (95% confidence interval [CI], 8.90-10.88), than those without T2I disease. The adjusted relative risk for the number of OME surgeries in patients with T2I disease was 11.14 (95% CI, 10.30-12.05). Kaplan-Meier analysis showed consistently higher cumulative incidence curves in patients with T2I disease throughout the follow-up period (log-rank test: <em>P</em> &lt; .001).</div></div><div><h3>Conclusions</h3><div>OME patients with T2I disease had a significantly higher incidence of undergoing surgery due to failed conservative treatment, indicating that T2I may play an important role in middle ear disorders. Further research on this topic should be considered significant and worthy of investigation.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 658-669"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
If and When to Consider Prophylactic Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia 过敏争议:是否以及何时考虑继发性低丙种球蛋白血症的预防性免疫球蛋白替代治疗。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.12.024
Iris M. Otani MD , Mark Ballow MD
Secondary hypogammaglobulinemia (SHG), or decreased IgG levels due to reduced production or increased loss caused by medications or underlying conditions, can be associated with increased infection risk. Although immunoglobulin replacement therapy (IgRT) is generally accepted as a strategy to help prevent recurrent bacterial infections in SHG, controversy exists as to whether it should be initiated to prevent the first occurrence of infection. This question has been raised particularly in the setting of anti-CD20 therapy, solid organ transplant, and B-cell malignancies and their treatments once IgG levels fall below 300 to 400 mg/dL. This article reviews the evidence for and against initiating IgRT in these settings, as well as associated considerations for evaluation and monitoring. Although it is relatively clear that infection risk increases with decreasing IgG levels, the exact contribution of SHG to overall infection risk and the protective benefit of IgRT in the absence of infections remain unclear. In the absence of clear consensus, shared decision-making is often needed to determine if and when to initiate IgRT.
继发性低丙种球蛋白血症,或由于药物或基础疾病引起的IgG产生减少或损失增加而导致IgG水平降低,可与感染风险增加有关。虽然免疫球蛋白替代疗法(IgRT)被普遍接受为帮助预防SHG复发性细菌感染的策略,但关于是否应该开始预防首次感染的发生存在争议。这个问题尤其在抗cd20治疗、实体器官移植和b细胞恶性肿瘤及其IgG水平低于300- 400mg /dL的治疗中被提出。本文回顾了支持和反对在这些情况下启动IgRT的证据,以及评估和监测的相关考虑因素。虽然感染风险随着IgG水平的降低而增加是相对清楚的,但SHG对总体感染风险的确切贡献以及IgRT在没有感染的情况下的保护作用仍不清楚。在缺乏明确共识的情况下,通常需要共同决策来确定是否以及何时启动IgRT。
{"title":"If and When to Consider Prophylactic Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia","authors":"Iris M. Otani MD ,&nbsp;Mark Ballow MD","doi":"10.1016/j.jaip.2024.12.024","DOIUrl":"10.1016/j.jaip.2024.12.024","url":null,"abstract":"<div><div>Secondary hypogammaglobulinemia (SHG), or decreased IgG levels due to reduced production or increased loss caused by medications or underlying conditions, can be associated with increased infection risk. Although immunoglobulin replacement therapy (IgRT) is generally accepted as a strategy to help prevent recurrent bacterial infections in SHG, controversy exists as to whether it should be initiated to prevent the first occurrence of infection. This question has been raised particularly in the setting of anti-CD20 therapy, solid organ transplant, and B-cell malignancies and their treatments once IgG levels fall below 300 to 400 mg/dL. This article reviews the evidence for and against initiating IgRT in these settings, as well as associated considerations for evaluation and monitoring. Although it is relatively clear that infection risk increases with decreasing IgG levels, the exact contribution of SHG to overall infection risk and the protective benefit of IgRT in the absence of infections remain unclear. In the absence of clear consensus, shared decision-making is often needed to determine if and when to initiate IgRT.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 511-521"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Diseases Linked to MEFV Variants or Pyrinopathies 与MEFV变体或pyrinopathy相关的新疾病。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2024.12.022
Philippe Mertz MD , Guilaine Boursier PhD , Véronique Hentgen MD , Sophie Georgin-Lavialle MD, PhD
Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response. Since the discovery of FMF, many other pathogenic variants of MEFV have been identified. These variants, apart from exon 10, are responsible for a variety of AIDs known as pyrin-associated AIDs or pyrinopathies. Variants in exon 10, 8, 5, and 3 are associated with dominant forms of FMF. Other inflammatory clinical pictures not resembling typical FMF are possible: pyrin-associated autoinflammation with neutrophilic dermatosis is characterized by febrile attacks and severe neutrophilic dermatosis associated with variants in exon 2; pyrin-associated autoinflammation with hypereosinophilia was described among patients displaying severe inflammation and hypereosinophilia-associated variants in exon 2, different from pyrin-associated autoinflammation with neutrophilic dermatosis; and pyrin-associated autoinflammation associated with neuroinflammation manifests with systemic inflammation, serositis, and neuroinflammation associated with variants in exon 9. Somatic forms of FMF have also been described. We present here a review of the literature on the various AIDs associated with pathogenic MEFV variants and propose a practical approach to the genetic diagnosis of MEFV-associated AIDs.
自身炎症性疾病(AIDs)的特点是先天免疫失调,导致全身炎症。家族性地中海热(FMF)是最常见的艾滋病,与MEFV外显子10的变异有关。该基因编码pyrin, pyrin是炎症小体中的一种关键蛋白质,与先天免疫反应有关。自FMF被发现以来,MEFV的许多其他致病变异已被鉴定出来。除外显子10外,这些变异负责多种自身炎症性疾病,称为pyrin相关自身炎症性疾病(PAAD)或pyrinopathies。外显子10、8、5和3的变异与FMF的显性形式有关。其他与典型FMF不同的炎症临床表现也有可能:PAAND (pyrin相关性自身炎症伴中性粒细胞性皮肤病)的特征是发热发作和与外显子2变异相关的严重中性粒细胞性皮肤病,PAAHe (pyrin相关性自身炎症伴嗜酸性粒细胞增多)在与PAAND不同的外显子2中表现出严重炎症和嗜酸性粒细胞增多相关变异的患者中被描述;PAANi (pyrin相关的与神经炎症相关的自身炎症)表现为全身性炎症、浆膜炎和与外显子9变异相关的神经炎症。FMF的躯体形式也被描述过。我们在此回顾了与MEFV致病性变异相关的各种自身炎症疾病的文献,并提出了一种实用的MEFV相关艾滋病的遗传诊断方法。
{"title":"New Diseases Linked to MEFV Variants or Pyrinopathies","authors":"Philippe Mertz MD ,&nbsp;Guilaine Boursier PhD ,&nbsp;Véronique Hentgen MD ,&nbsp;Sophie Georgin-Lavialle MD, PhD","doi":"10.1016/j.jaip.2024.12.022","DOIUrl":"10.1016/j.jaip.2024.12.022","url":null,"abstract":"<div><div>Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of <em>MEFV</em>. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response. Since the discovery of FMF, many other pathogenic variants of <em>MEFV</em> have been identified. These variants, apart from exon 10, are responsible for a variety of AIDs known as pyrin-associated AIDs or pyrinopathies. Variants in exon 10, 8, 5, and 3 are associated with dominant forms of FMF. Other inflammatory clinical pictures not resembling typical FMF are possible: pyrin-associated autoinflammation with neutrophilic dermatosis is characterized by febrile attacks and severe neutrophilic dermatosis associated with variants in exon 2; pyrin-associated autoinflammation with hypereosinophilia was described among patients displaying severe inflammation and hypereosinophilia-associated variants in exon 2, different from pyrin-associated autoinflammation with neutrophilic dermatosis; and pyrin-associated autoinflammation associated with neuroinflammation manifests with systemic inflammation, serositis, and neuroinflammation associated with variants in exon 9. Somatic forms of FMF have also been described. We present here a review of the literature on the various AIDs associated with pathogenic <em>MEFV</em> variants and propose a practical approach to the genetic diagnosis of <em>MEFV</em>-associated AIDs.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 522-532"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cough Reflex Hypersensitivity: A Common and Important Treatable Trait
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/j.jaip.2025.01.013
Ian D. Pavord FMedSci , Peter G. Gibson FAAHMS
{"title":"Cough Reflex Hypersensitivity: A Common and Important Treatable Trait","authors":"Ian D. Pavord FMedSci ,&nbsp;Peter G. Gibson FAAHMS","doi":"10.1016/j.jaip.2025.01.013","DOIUrl":"10.1016/j.jaip.2025.01.013","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 499-500"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Continuing Medical Education Calendar
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-03-01 DOI: 10.1016/S2213-2198(25)00109-6
{"title":"Continuing Medical Education Calendar","authors":"","doi":"10.1016/S2213-2198(25)00109-6","DOIUrl":"10.1016/S2213-2198(25)00109-6","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages A21-A22"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Journal of Allergy and Clinical Immunology-In Practice
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