Oskar Schnappauf PhD , Hongying Wang PhD , Ivona Aksentijevich MD , Daniel L. Kastner MD, PhD , Ronald M. Laxer MD
{"title":"A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome","authors":"Oskar Schnappauf PhD , Hongying Wang PhD , Ivona Aksentijevich MD , Daniel L. Kastner MD, PhD , Ronald M. Laxer MD","doi":"10.1016/j.jacig.2025.100400","DOIUrl":"10.1016/j.jacig.2025.100400","url":null,"abstract":"<div><div>The critical need for awareness and genetic testing of the <em>SAMHD1</em> deletion in Ashkenazi Jewish patients is highlighted owing to its relatively high carrier frequency. Early detection can prevent severe disease complications through targeted therapy.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100400"},"PeriodicalIF":0.0,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143152583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acute/baseline ratios of all 3 MC mediator metabolites can enhance diagnosis and management of mast cell activation syndrome","authors":"Joseph H. Butterfield MD , Adela Taylor MD","doi":"10.1016/j.jacig.2024.100399","DOIUrl":"10.1016/j.jacig.2024.100399","url":null,"abstract":"<div><h3>Background</h3><div>Mast cell (MC) activation syndrome (MCAS) can be a challenge to diagnose and treat despite the near continuous appearance of publications outlining specific criteria. Follow-up of the clinical responses to treatment is often lacking, and confirmation that leukotriene C<sub>4</sub> (LTC<sub>4</sub>) is an active participant in MCAS has been overlooked.</div></div><div><h3>Objective</h3><div>Three patients with MCAS characterized by anaphylaxis are presented to illustrate (1) the value of contemporaneous urinary mediator sampling during MCAS in addition to serum tryptase measurements and (2) substantiation of the fact that not only can LTC<sub>4</sub> (measured metabolite LTE<sub>4</sub>) be the highest metabolite measured, but (3) blockade of the LTE<sub>4</sub> receptor can contribute to symptom prevention.</div></div><div><h3>Method</h3><div>The study methods comprised clinical review and quantitation of acute and baseline levels of tryptase and urinary MC mediators.</div></div><div><h3>Results</h3><div>The cases of 3 patients with MCAS are reviewed. In the first case, vespid sting–induced anaphylaxis was associated with a marked increase in the LTE<sub>4</sub> excretion. The addition of montelukast was instituted, and subsequent stings did not evoke symptoms. In the second case, acute measurements showed substantial increased levels of (2,3-dinor)-11β-prostaglandin F<sub>2α</sub>, and LTE<sub>4</sub>. The addition of aspirin plus montelukast prevented subsequent attacks. The third case documents a perioperative anaphylactic event with an acute/baseline LTE<sub>4</sub> ratio far higher than those of tryptase or other metabolites.</div></div><div><h3>Conclusions</h3><div>The value of measuring all 3 MC mediator metabolites during MCAS should not be overlooked. These measurements can facilitate the successful prevention of attacks. Furthermore, results from these tests show that histamine is often a minor player, whereas acute/baseline levels of the metabolites of LTC<sub>4</sub> and prostaglandin D<sub>2</sub> are frequently much higher, warranting nonantihistamine treatment.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100399"},"PeriodicalIF":0.0,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Tezepelumab treatment in severe asthma with recurrent chronic rhinosinusitis with nasal polyps: Case series","authors":"Yoshiro Kai MD, PhD","doi":"10.1016/j.jacig.2024.100396","DOIUrl":"10.1016/j.jacig.2024.100396","url":null,"abstract":"<div><h3>Background</h3><div>Tezepelumab is a human IgG2 mAb that inhibits thymic stromal lymphopoietin (TSLP) and is approved for treatment of severe asthma. Bronchial asthma, usually a type 2 inflammatory disease, often co-occurs with chronic rhinosinusitis with nasal polyps (CRSwNP). However, tezepelumab has unknown effects on severe asthma with CRSwNP. Patients with CRSwNP are frequently candidates for endoscopic sinus surgery (ESS). CRSwNP is a crucial factor influencing asthma symptoms. However, some patients experience recurrent CRSwNP.</div></div><div><h3>Objective</h3><div>Tezepelumab was approved for use with CRSwNP, and TSLP is involved in the pathogenesis of CRSwNP. This study presents the cases of 2 patients with severe asthma complicated with recurrent CRSwNP after ESS in whom tezepelumab rapidly improved asthma and sinusitis symptoms.</div></div><div><h3>Methods</h3><div>We evaluated tezepelumab treatment in patients with severe asthma with recurrent CRSwNP based on symptoms, asthma exacerbation, level of type 2 cytokines, and lung function.</div></div><div><h3>Results</h3><div>After they had received a high-dose inhaled corticosteroid and long-acting β<sub>2</sub>-agonist, the patients’ asthma remained uncontrolled, as defined by a low Asthma Control Test score. However, tezepelumab reduced severe asthma exacerbation, improved lung function, and controlled asthma symptoms. It improved CRSwNP, asthma-related symptoms, and exercise tolerance, and it inhibited type 2 cytokines extensively, indicating its effectiveness in treating CRSwNP. Tezepelumab was efficacious in these patients and improved their symptoms in terms of comorbidities of the upper and lower airways.</div></div><div><h3>Conclusion</h3><div>Tezepelumab was effective in treating asthma complicated with CRSwNP recurrence after ESS. However, further studies are required to identify the general and specific roles of tezepelumab in treating severe asthma and recurrent CRSwNP.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100396"},"PeriodicalIF":0.0,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Three-dimensional bronchial tree visualization in exercise-induced severe asthma following tezepelumab treatment","authors":"Yoshiro Kai MD, PhD , Yuichi Hishida RT","doi":"10.1016/j.jacig.2024.100398","DOIUrl":"10.1016/j.jacig.2024.100398","url":null,"abstract":"<div><div>Airway hyperresponsiveness, a key feature of asthma, is associated with exercise-induced asthma. Tezepelumab was reported to reduce airway hyperresponsiveness. Tezepelumab was confirmed through 3-dimensional bronchial tree visualization to be effective for exercise-induced asthma, reducing the need for a short-acting β2 agonist.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100398"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Brian D. Modena MD, MSc , Allison Ramsey MD , Shahzad Mustafa MD , Doug Jones MD , Caroline Caperton MD, MSPH
{"title":"Correspondence re: Randhawa et al, TIP’s success in the treatment of cow’s milk anaphylaxis leaves many questions unanswered","authors":"Brian D. Modena MD, MSc , Allison Ramsey MD , Shahzad Mustafa MD , Doug Jones MD , Caroline Caperton MD, MSPH","doi":"10.1016/j.jacig.2024.100394","DOIUrl":"10.1016/j.jacig.2024.100394","url":null,"abstract":"","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100394"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correspondence re: Long-term efficacy and safety of cow's milk anaphylaxis specific immunotherapy: Allergen unresponsiveness via the Tolerance Induction Program","authors":"Richard L. Wasserman MD, PhD","doi":"10.1016/j.jacig.2024.100393","DOIUrl":"10.1016/j.jacig.2024.100393","url":null,"abstract":"","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100393"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Torsten Zuberbier MD , Ana M. Giménez-Arnau MD , Marcus Maurer MD
{"title":"Predictive model to differentiate chronic histaminergic angioedema and chronic spontaneous urticaria with angioedema","authors":"Torsten Zuberbier MD , Ana M. Giménez-Arnau MD , Marcus Maurer MD","doi":"10.1016/j.jacig.2024.100389","DOIUrl":"10.1016/j.jacig.2024.100389","url":null,"abstract":"","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100389"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Seth T. Knight MD , Brett K. Muramoto , Erin C. Lindgren , John C. Carlson MD, PhD
{"title":"Conflicting predictions of whole egg versus egg component testing: A case report","authors":"Seth T. Knight MD , Brett K. Muramoto , Erin C. Lindgren , John C. Carlson MD, PhD","doi":"10.1016/j.jacig.2024.100370","DOIUrl":"10.1016/j.jacig.2024.100370","url":null,"abstract":"<div><div>The results of component testing for patients with egg allergy may conflict with the results of whole allergen testing, with the potential of influencing patients’ decision to undergo high-risk ingestion challenge.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 1","pages":"Article 100370"},"PeriodicalIF":0.0,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142759473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chamard Wongsa MD , Pakpoom Wongyikul MD , Piyaporn Chokevittaya MD , Anapat Nititammaluk MD , Kay Khine Soe MD, PhD , Phichayut Phinyo MD, PhD , Jonathan A. Bernstein MD , Torpong Thongngarm MD
{"title":"Subtype prevalence and treatment implication in adolescents and adults with mild-to-moderate asthma: Systematic review and meta-analysis","authors":"Chamard Wongsa MD , Pakpoom Wongyikul MD , Piyaporn Chokevittaya MD , Anapat Nititammaluk MD , Kay Khine Soe MD, PhD , Phichayut Phinyo MD, PhD , Jonathan A. Bernstein MD , Torpong Thongngarm MD","doi":"10.1016/j.jacig.2024.100366","DOIUrl":"10.1016/j.jacig.2024.100366","url":null,"abstract":"<div><h3>Background</h3><div>Inhaled corticosteroid (ICS)-containing regimens are the mainstay for treating asthma despite usually being ineffective in noneosinophilic asthma (NEA). Data on the prevalence of NEA versus eosinophilic asthma (EA) in mild-to-moderate asthma are limited.</div></div><div><h3>Objective</h3><div>We performed a systematic review of the prevalence of mild-to-moderate asthma in adolescents and adults using sputum inflammatory cell analysis and their responses to ICS.</div></div><div><h3>Methods</h3><div>We searched electronic databases (PubMed, Scopus, EMBASE, Cochrane) for studies in adolescents and adults with mild-to-moderate asthma. The primary outcome was the prevalence of asthma subtypes based on sputum inflammatory cell analysis, categorized into EA and NEA. The secondary outcome involved comparing asthma outcomes between different subtypes after ICS therapy. Certainty of evidence was reported for each pooled analysis.</div></div><div><h3>Results</h3><div>Eighteen studies involving 3,533 adolescents and adults with mild-to-moderate asthma were reviewed. The pooled prevalence (95% confidence interval) of NEA was estimated at 40.39% (27.54, 53.93) in patients with ICS naive with very low certainty of evidence. On reevaluating sputum cytology, the disease of approximately 20% to 30% of patients initially diagnosed as NEA transitioned to the EA subtype. EA patients showed significant improvements in asthma symptoms after ICS therapy: forced expiratory volume in 1 second (standardized mean difference, 0.79; 95% confidence interval, 0.30, 1.27), and airway hyperresponsiveness (standardized mean difference, 1.34; 95% confidence interval, 0.29, 2.40). NEA patients exhibited limited response.</div></div><div><h3>Conclusion</h3><div>A high proportion of adolescents and adults with mild-to-moderate asthma were identified with NEA subtype disease, which exhibited a poor response to ICS. A thorough diagnostic evaluation before initiating treatment should be integrated into clinical practice.</div><div>Registered in PROSPERO (CRD42023484334)</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 1","pages":"Article 100366"},"PeriodicalIF":0.0,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142701740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}