Pub Date : 2025-03-01DOI: 10.1016/j.jaip.2025.02.001
{"title":"A Special Thank-You to Our Reviewers","authors":"","doi":"10.1016/j.jaip.2025.02.001","DOIUrl":"10.1016/j.jaip.2025.02.001","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 449-451"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548032","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}
Pub Date : 2025-03-01DOI: 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.
{"title":"Cough Reflex Hypersensitivity as a Key Treatable Trait","authors":"Woo-Jung Song MD, PhD , Deepti Vellaichamy Manian MD , Yeonhee Kim MD , Mengru Zhang MD , Alyn H. Morice MD","doi":"10.1016/j.jaip.2024.10.046","DOIUrl":"10.1016/j.jaip.2024.10.046","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 469-478"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142666706","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}
Pub Date : 2025-03-01DOI: 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.
{"title":"Dupilumab Efficacy and Safety in Children With Moderate to Severe Asthma and High Blood Eosinophils: A Post Hoc Analysis of VOYAGE","authors":"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","doi":"10.1016/j.jaip.2024.11.014","DOIUrl":"10.1016/j.jaip.2024.11.014","url":null,"abstract":"<div><h3>Background</h3><div>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).</div></div><div><h3>Objective</h3><div>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.</div></div><div><h3>Methods</h3><div>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 FEV<sub>1</sub>, and incidence of treatment-emergent adverse events.</div></div><div><h3>Results</h3><div>In children with elevated baseline eosinophils (N = 174), dupilumab versus placebo significantly reduced annualized exacerbation rates by 67% (95% CI, 38%-82%; <em>P</em> < .001) and improved prebronchodilator percent predicted FEV<sub>1</sub> from baseline at weeks 24 and 52 (week 24 least squares mean difference, 7.58 percentage points; 95% CI, 2.85-12.31; <em>P</em> = .002; week 52 least squares mean difference, 7.98 percentage points; 95% CI, 2.17-13.78; <em>P</em> = .007). The incidence of treatment-emergent adverse events was similar with dupilumab and placebo.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 568-575"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755775","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}
Pub Date : 2025-03-01DOI: 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
{"title":"Clinical monitoring of eosinophilic esophagitis using the esophageal string test","authors":"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","doi":"10.1016/j.jaip.2024.12.030","DOIUrl":"10.1016/j.jaip.2024.12.030","url":null,"abstract":"","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 705-707.e1"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142907666","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}
Pub Date : 2025-03-01DOI: 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.
{"title":"Relationships Between Chronic Cough and Asthma Control and Quality of Life in Patients With Severe Asthma: A 6-Month Longitudinal Analysis","authors":"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","doi":"10.1016/j.jaip.2025.01.006","DOIUrl":"10.1016/j.jaip.2025.01.006","url":null,"abstract":"<div><h3>Background</h3><div>The prevalence and clinical implications of chronic cough (CC) in patients with severe asthma receiving asthma treatment remain relatively unknown.</div></div><div><h3>Objective</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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 <em>P</em> < .001), poorer asthma control (<em>P</em> < .001), and worse QoL (Severe Asthma Questionnaire [SAQ] and Euro-QoL 5-Dimension [EQ-5D] index, all <em>P</em> < .001) than those without CC. During the follow-up, patients with CC were more frequently exposed to oral corticosteroids (58.6% vs 38.6%, <em>P</em> = .010) and experienced more frequent asthma exacerbations (48.3% vs 28.6%, <em>P</em> = .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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":"13 3","pages":"Pages 533-541.e3"},"PeriodicalIF":8.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973248","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}
Pub Date : 2025-03-01DOI: 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.
{"title":"Increased Incidence of Surgical Intervention for Otitis Media With Effusion Among Patients With Type 2 Inflammatory Diseases","authors":"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","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> < .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}
Pub Date : 2025-03-01DOI: 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.
{"title":"If and When to Consider Prophylactic Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia","authors":"Iris M. Otani MD , 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}
Pub Date : 2025-03-01DOI: 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.
{"title":"New Diseases Linked to MEFV Variants or Pyrinopathies","authors":"Philippe Mertz MD , Guilaine Boursier PhD , Véronique Hentgen MD , 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}
Pub Date : 2025-03-01DOI: 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 , 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}
Pub Date : 2025-03-01DOI: 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}
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