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The dilemma of X-linked agammaglobulinemia carriers
The journal of allergy and clinical immunology. Global Pub Date : 2025-02-01 DOI: 10.1016/j.jacig.2024.100384
Federica Pulvirenti MD, PhD , Cinzia Milito MD, PhD , Francesco Cinetto MD, PhD , Giulia Garzi MD , Germano Sardella MD , Giuseppe Spadaro MD , Francesca Lippi MD , Valentina Guarnieri MD , Bianca Laura Cinicola MD , Maria Carrabba MD, PhD , Daniele Guadagnolo MD , Giovanna Fabio MD , Baldassarre Martire MD , Caterina Cancrini MD, PhD , Giulia Lanzoni MD , Andrea Finocchi MD, PhD , Gigliola Di Matteo MD, PhD , Eva Pompilii MD , Simona Ferrari BD, PhD , Isabella Quinti MD, PhD
{"title":"The dilemma of X-linked agammaglobulinemia carriers","authors":"Federica Pulvirenti MD, PhD ,&nbsp;Cinzia Milito MD, PhD ,&nbsp;Francesco Cinetto MD, PhD ,&nbsp;Giulia Garzi MD ,&nbsp;Germano Sardella MD ,&nbsp;Giuseppe Spadaro MD ,&nbsp;Francesca Lippi MD ,&nbsp;Valentina Guarnieri MD ,&nbsp;Bianca Laura Cinicola MD ,&nbsp;Maria Carrabba MD, PhD ,&nbsp;Daniele Guadagnolo MD ,&nbsp;Giovanna Fabio MD ,&nbsp;Baldassarre Martire MD ,&nbsp;Caterina Cancrini MD, PhD ,&nbsp;Giulia Lanzoni MD ,&nbsp;Andrea Finocchi MD, PhD ,&nbsp;Gigliola Di Matteo MD, PhD ,&nbsp;Eva Pompilii MD ,&nbsp;Simona Ferrari BD, PhD ,&nbsp;Isabella Quinti MD, PhD","doi":"10.1016/j.jacig.2024.100384","DOIUrl":"10.1016/j.jacig.2024.100384","url":null,"abstract":"<div><h3>Background</h3><div>Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.</div></div><div><h3>Objective</h3><div>We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.</div></div><div><h3>Methods</h3><div>In this multicenter, retrospective cohort study, we collected a 3-generation pedigree and data on mothers and sisters of patients with XLA, including carrier status and pregnancy outcome.</div></div><div><h3>Results</h3><div>Data on 53 adults with XLA, 52 mothers, and 33 sisters were collected. All XLA sisters received genetic counseling. Forty percent of the sisters chose to undergo carrier status determination, and 60% of them chose invasive prenatal testing. The main reasons for the sisters to decide not to undergo genetic testing were their young age and the willingness to carry on with the pregnancy regardless of the outcome of the genetic test, followed by the willingness to postpone the decision at the time of pregnancy and the decision to not have children. Prenatal testing resulted in 5 XLA diagnoses, with 2 pregnancy terminations, 1 miscarriage, and 2 XLA live births. Three carriers refused prenatal testing and had 6 live births, including 3 XLA-affected sons. One sister was diagnosed as a carrier after the birth of an XLA-affected son. In total, 9 XLA diagnoses were made, including 6 live births.</div></div><div><h3>Conclusions</h3><div>A number of XLA sister carriers decided to carry on with their pregnancy after receiving the diagnosis of an affected fetus or after refusing prenatal testing. We propose to initiate a more extensive collaborative study to verify the effect of genetic counseling on families with XLA in other cohorts from different countries.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 1","pages":"Article 100384"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048973","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}
引用次数: 0
Eosinophilic esophagitis in children: A multicenter study evaluating current practices in Mexico
The journal of allergy and clinical immunology. Global Pub Date : 2025-02-01 DOI: 10.1016/j.jacig.2024.100392
Victor Gonzalez-Uribe MD, MSc , Luis A. Hernandez-Zarate MD , Cesar F. Pozo Beltran MD , Christian R. Alcocer-Arreguin MD , Paola de Baro Alvarez MD, MEd , Natalia Coello-Niembro MD , Pablo Jimenez-Feria MD , Zaira S. Mojica Gonzalez MD , Carlos Andres Gomez-Nuñez MD , Ricardo Martinez-Tenopala MD , Martín R. Basile-Alvarez MD , Berenice Velasco-Benhumea MD , Roberto Fernandez-Soto MD , Daniela E. García-Fajardo MD , Herberth Perez-Avilés MD , Cesar Pinto-Solis MD , Luis A. Rios-Villalobos MD , Roberto Ureña-Ortiz MD , Leticia Lezama-Vazquez MD , Patricio Acosta-Rodriguez-Bueno MD, MSc , Blanca Estela Del Rio-Navarro MD
{"title":"Eosinophilic esophagitis in children: A multicenter study evaluating current practices in Mexico","authors":"Victor Gonzalez-Uribe MD, MSc ,&nbsp;Luis A. Hernandez-Zarate MD ,&nbsp;Cesar F. Pozo Beltran MD ,&nbsp;Christian R. Alcocer-Arreguin MD ,&nbsp;Paola de Baro Alvarez MD, MEd ,&nbsp;Natalia Coello-Niembro MD ,&nbsp;Pablo Jimenez-Feria MD ,&nbsp;Zaira S. Mojica Gonzalez MD ,&nbsp;Carlos Andres Gomez-Nuñez MD ,&nbsp;Ricardo Martinez-Tenopala MD ,&nbsp;Martín R. Basile-Alvarez MD ,&nbsp;Berenice Velasco-Benhumea MD ,&nbsp;Roberto Fernandez-Soto MD ,&nbsp;Daniela E. García-Fajardo MD ,&nbsp;Herberth Perez-Avilés MD ,&nbsp;Cesar Pinto-Solis MD ,&nbsp;Luis A. Rios-Villalobos MD ,&nbsp;Roberto Ureña-Ortiz MD ,&nbsp;Leticia Lezama-Vazquez MD ,&nbsp;Patricio Acosta-Rodriguez-Bueno MD, MSc ,&nbsp;Blanca Estela Del Rio-Navarro MD","doi":"10.1016/j.jacig.2024.100392","DOIUrl":"10.1016/j.jacig.2024.100392","url":null,"abstract":"<div><h3>Background</h3><div>Eosinophilic esophagitis (EoE) is a chronic immune-mediated condition characterized by eosinophil infiltration in the esophagus, leading to symptoms such as food impaction and growth delays. Despite its increasing recognition, there is significant variability in diagnostic and treatment practices, particularly in pediatric populations.</div></div><div><h3>Objectives</h3><div>This study aimed to evaluate the current diagnostic and treatment practices for EoE in children across multiple centers in Mexico, identify common clinical presentations, and assess the role of IgG<sub>4</sub> in EoE.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 32 pediatric patients diagnosed with EoE. Data on clinical symptoms, endoscopic findings, histologic analysis, allergy assessments, and treatment approaches were collected. The presence of IgG<sub>4</sub>-positive plasma cells was also evaluated.</div></div><div><h3>Results</h3><div>The median age was 10.6 years, with a diagnostic delay of 15.5 months. Acute food impaction was the most common symptom, and 82% had a personal history of atopy. Endoscopic abnormalities were observed in 71% of patients. Histologic analysis confirmed EoE in 83.8% of biopsy samples, with eosinophil counts averaging 17 to 24 per high-power field. IgG<sub>4</sub>-positive plasma cells were present in 76.5% of patients. Treatment varied, with many receiving proton pump inhibitors and topical corticosteroids, but patients treated with dupilumab showed significant improvement.</div></div><div><h3>Conclusions</h3><div>The study highlights the challenges in diagnosing and managing EoE in children, emphasizing the need for standardized practices and comprehensive evaluations. The presence of IgG<sub>4</sub>-positive plasma cells suggests a potential role in EoE pathophysiology. Further research is needed to establish effective treatment guidelines and confirm the potential of dupilumab as a therapeutic option.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 1","pages":"Article 100392"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174676","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}
引用次数: 0
Single-cell immunopathology of recurrent acute generalized exanthematous pustulosis associated with vancomycin
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-21 DOI: 10.1016/j.jacig.2025.100426
Eric M. Mukherjee MD, PhD , Andrew Gibson PhD , Matthew S. Krantz MD , Rama Gangula MS , Amy M. Palubinsky PhD , Alan S. Boyd MD , Jeffrey P. Zwerner MD, PhD , Anna K. Dewan MD, MS , Nontaya Nakkam PhD , Katherine C. Konvinse MD, PhD , Yueran Li PhD , Ramesh Ram PhD , Abha Chopra PhD , Elizabeth J. Phillips MD
{"title":"Single-cell immunopathology of recurrent acute generalized exanthematous pustulosis associated with vancomycin","authors":"Eric M. Mukherjee MD, PhD ,&nbsp;Andrew Gibson PhD ,&nbsp;Matthew S. Krantz MD ,&nbsp;Rama Gangula MS ,&nbsp;Amy M. Palubinsky PhD ,&nbsp;Alan S. Boyd MD ,&nbsp;Jeffrey P. Zwerner MD, PhD ,&nbsp;Anna K. Dewan MD, MS ,&nbsp;Nontaya Nakkam PhD ,&nbsp;Katherine C. Konvinse MD, PhD ,&nbsp;Yueran Li PhD ,&nbsp;Ramesh Ram PhD ,&nbsp;Abha Chopra PhD ,&nbsp;Elizabeth J. Phillips MD","doi":"10.1016/j.jacig.2025.100426","DOIUrl":"10.1016/j.jacig.2025.100426","url":null,"abstract":"<div><h3>Background</h3><div>Acute generalized exanthematous pustulosis (AGEP) is a severe cutaneous adverse reaction to medication that presents within 72 hours of exposure with erythematous papules and plaques with overlying pustules. The immunopathogenesis and predisposing factors of AGEP are not well characterized.</div></div><div><h3>Objective</h3><div>To better understand the genetic risk factors and single-cell immunopathogenesis of AGEP, we longitudinally characterized a patient with recurrent AGEP after an initial episode triggered by vancomycin.</div></div><div><h3>Methods</h3><div>A clinical timeline over an 8-year period was paired with skin testing, histopathology, and immunogenetic and other testing at 3 time points. Skin biopsies performed on affected skin (positive vancomycin-delayed intradermal testing [IDT]) and unaffected control skin 8 years after the initial event were subjected to single-cell sequencing to measure gene and protein expression.</div></div><div><h3>Results</h3><div>The patient was HLA-A∗32:01 positive, which has been associated with vancomycin-induced drug reaction with eosinophilia and systemic symptoms. IDT remained positive over time, despite recurrent reactions without drug exposure. Clinical features and histopathology of IDT-positive skin were consistent with AGEP. Single-cell analysis of affected skin showed polyclonal T<sub>H</sub>17-like cells with gene expression signatures similar to T-cell response during prevalent infectious diseases.</div></div><div><h3>Conclusions</h3><div>This patient exhibited persistent vancomycin-positive IDT despite distinct nondrug episodes of ALEP/AGEP. This suggests that AGEP may be triggered by both antigen-specific and non–antigen-specific factors. AGEP-affected skin showed an inflammatory infiltrate with a T<sub>H</sub>17-like effector population, which may represent potentially actionable targets for therapeutic intervention. The presence of HLA-A∗32:01, a defined risk factor for vancomycin-induced drug reaction with eosinophilia and systemic symptoms, may indicate a shared predisposition, warranting further study.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100426"},"PeriodicalIF":0.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143332866","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}
引用次数: 0
Tezepelumab for asthma with current or previous smoking habit: Case series
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-18 DOI: 10.1016/j.jacig.2025.100420
Yoshiro Kai MD, PhD , Kentaro Suzuki MD , Ryosuke Kataoka MD
{"title":"Tezepelumab for asthma with current or previous smoking habit: Case series","authors":"Yoshiro Kai MD, PhD ,&nbsp;Kentaro Suzuki MD ,&nbsp;Ryosuke Kataoka MD","doi":"10.1016/j.jacig.2025.100420","DOIUrl":"10.1016/j.jacig.2025.100420","url":null,"abstract":"<div><div>Tezepelumab effectively treated severe asthma in a current smoker and a former smoker, suggesting that thymic stromal lymphopoietin is involved in the pathogenesis of severe asthma in these patients. Tezepelumab may additionally be used for severe asthma in current and former smokers.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100420"},"PeriodicalIF":0.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143332643","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}
引用次数: 0
Multidisciplinary care in pediatric severe asthma: A comparative outcomes analysis
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-18 DOI: 10.1016/j.jacig.2025.100417
Adam S. Price MD , Akilah A. Jefferson-Shah MD , Robert D. Pesek MD , Erhan Ararat MD , Safia F. Nawaz MD , Matthew Pertzborn MD , Kim Cobb RT , Haley Long RT , Monica Y. Miller LMSW , Brandi N. Whitaker PhD , Stacie M. Jones MD , Scott Stewart MS , Daniel Liu MD , Tamara T. Perry MD
{"title":"Multidisciplinary care in pediatric severe asthma: A comparative outcomes analysis","authors":"Adam S. Price MD ,&nbsp;Akilah A. Jefferson-Shah MD ,&nbsp;Robert D. Pesek MD ,&nbsp;Erhan Ararat MD ,&nbsp;Safia F. Nawaz MD ,&nbsp;Matthew Pertzborn MD ,&nbsp;Kim Cobb RT ,&nbsp;Haley Long RT ,&nbsp;Monica Y. Miller LMSW ,&nbsp;Brandi N. Whitaker PhD ,&nbsp;Stacie M. Jones MD ,&nbsp;Scott Stewart MS ,&nbsp;Daniel Liu MD ,&nbsp;Tamara T. Perry MD","doi":"10.1016/j.jacig.2025.100417","DOIUrl":"10.1016/j.jacig.2025.100417","url":null,"abstract":"<div><h3>Background</h3><div>There are limited data comparing the effectiveness of multidisciplinary severe asthma clinics (SACs) with that of conventional single-discipline clinics (SDCs) for pediatric severe asthma.</div></div><div><h3>Objective</h3><div>Our aim was to compare asthma outcomes between SACs and SDCs clinics and examine longitudinal health outcomes for patients with severe asthma who were followed in SACs.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study comparing pediatric asthma outcomes among patients with severe asthma between 2018 and 2022 who were treated at the multidisciplinary Arkansas Children's SAC with those of patients with severe asthma treated at SDCs. The primary outcome was acute health care utilization, including hospitalizations and emergency department visits. Secondary outcomes included systemic corticosteroid prescriptions and controller medications. For SAC enrollees, longitudinal outcomes including health care utilization, symptom control, and spirometry were evaluated 12 months before and after enrollment. Data sources included the electronic health record and SAC patient registry.</div></div><div><h3>Results</h3><div>The study population included 280 patients with severe asthma, aged 5 to 18 years, from the SAC (n = 56) and SDCs (n = 224). The SAC patients were more likely to be Black (79% vs 52% [<em>P</em> = .0002]), be non-Hispanic (100% vs 88% [<em>P</em> = .01]), have had at least 1 hospitalization (21% vs 10% [<em>P</em> = .04]), and have received at least 2 prescriptions for a systemic corticosteroid (34% vs 17% [<em>P</em> = .01]). Longitudinal outcomes among patients for the 12 months before SAC enrollment versus 12 months after SAC enrollment demonstrated significant reductions in acute exacerbations (from 35 to 8 [<em>P</em> &lt; .001]), hospitalizations (from 21 to 1 [<em>P</em> &lt; .001]), and intensive care unit admissions (from 8 to 1 [<em>P</em> = .02]).</div></div><div><h3>Conclusions</h3><div>The study highlights significant morbidity among predominately Black pediatric patients with severe asthma, particularly those followed in a SAC versus in SDCs at a tertiary care referral center. The findings demonstrate the value of targeted multidisciplinary approaches to reduce asthma utilization and improve outcomes among high-risk patients.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100417"},"PeriodicalIF":0.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143332867","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}
引用次数: 0
Multicomponent intervention for schoolchildren with asthma: Pilot cluster randomized controlled trial
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-18 DOI: 10.1016/j.jacig.2025.100418
Marina Reznik MD, MS , Florinda Islamovic MD , Jill S. Halterman MD, MPH , Cheng-Shiun Leu PhD , Jiaqing Zhang PhD , Philip O. Ozuah MD, PhD
{"title":"Multicomponent intervention for schoolchildren with asthma: Pilot cluster randomized controlled trial","authors":"Marina Reznik MD, MS ,&nbsp;Florinda Islamovic MD ,&nbsp;Jill S. Halterman MD, MPH ,&nbsp;Cheng-Shiun Leu PhD ,&nbsp;Jiaqing Zhang PhD ,&nbsp;Philip O. Ozuah MD, PhD","doi":"10.1016/j.jacig.2025.100418","DOIUrl":"10.1016/j.jacig.2025.100418","url":null,"abstract":"<div><h3>Background</h3><div>Physical activity (PA) is an important factor in asthma management. However, studies report low PA in children with asthma living in underserved communities.</div></div><div><h3>Objective</h3><div>We assessed preliminary effectiveness of a pilot multicomponent asthma intervention that includes classroom-based PA, asthma education to increase knowledge and reduce stigma, and care coordination to facilitate guideline-based care, on PA and symptom-free days (SFD) in urban, historically marginalized children with asthma.</div></div><div><h3>Methods</h3><div>Children aged 7-10 years with asthma and their caregivers were recruited from 4 Bronx, NY, schools. We randomly assigned 2 schools as intervention and 2 as control sites. Child PA (primary outcome) was measured by accelerometers at 4 time points, and caregivers completed surveys on asthma symptoms. Analyses used generalized linear mixed models with generalized estimating equation adjusting for clustering. Clinical Trial Registration: <span><span>ClinicalTrials.gov</span><svg><path></path></svg></span> NCT01873755.</div></div><div><h3>Results</h3><div>We included 107 children (53% male participants, 82% Hispanic, mean [standard deviation] age 9.0 [1.0] years, 76% with persistent or uncontrolled asthma). Children in the intervention group had a significantly greater increase in total moderate-to-vigorous PA and step counts at 12 months after intervention in the entire sample (β = 6.05, <em>P</em> &lt; .0001; β = 579.11, <em>P</em> = .008, respectively) and in those with persistent or uncontrolled asthma compared to controls (β = 6.20, <em>P</em> &lt; .001; β = 639.08, <em>P</em> = .004, respectively). Similar beneficial intervention effects were found in improvement in SFD over 2 weeks in the entire sample (β = 1.38, <em>P</em> = .018) and in children with persistent or uncontrolled asthma (β = 1.82, <em>P</em> = .011) compared to controls.</div></div><div><h3>Conclusion</h3><div>A pilot intervention addressing multiple barriers to PA, including stigma, teacher confidence in asthma management, access to PA, and in-school medication, improved PA levels and SFD in students with asthma.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100418"},"PeriodicalIF":0.0,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143332868","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}
引用次数: 0
Hereditary angioedema diagnosis evaluation score (HADES): A new clinical scoring system for predicting hereditary angioedema with C1 inhibitor deficiency
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-17 DOI: 10.1016/j.jacig.2025.100414
Ricardo Zwiener MD , Rafael Zamora MD , Carlos María Galmarini MD, PhD , Laura Brion PhD , Laura Arias MD , Andrea Pino MD , Paula Rozenfeld PhD
{"title":"Hereditary angioedema diagnosis evaluation score (HADES): A new clinical scoring system for predicting hereditary angioedema with C1 inhibitor deficiency","authors":"Ricardo Zwiener MD ,&nbsp;Rafael Zamora MD ,&nbsp;Carlos María Galmarini MD, PhD ,&nbsp;Laura Brion PhD ,&nbsp;Laura Arias MD ,&nbsp;Andrea Pino MD ,&nbsp;Paula Rozenfeld PhD","doi":"10.1016/j.jacig.2025.100414","DOIUrl":"10.1016/j.jacig.2025.100414","url":null,"abstract":"<div><h3>Background</h3><div>Diagnosis of hereditary angioedema (HAE) poses challenges because of its rarity and its overlapping symptoms with allergic and gastrointestinal conditions, resulting in misdiagnosis.</div></div><div><h3>Objective</h3><div>We developed a predictive score using clinical variables for suspected HAE patients with C1 inhibitor deficiency (HAE-C1INH) to increase suspicion of HAE and thus improve diagnosis.</div></div><div><h3>Methods</h3><div>The HADES (HAE diagnosis evaluation score) study used a nationwide retrospective cohort of individuals with suspected HAE-C1INH in Argentina. A questionnaire was designed to collect relevant clinical information on possible predictors for HAE. Blood samples were analyzed for C1-INH/C1q levels and C1-INH function. A predictive score was developed from the odds ratios derived from multivariate logistic regression analysis.</div></div><div><h3>Results</h3><div>The study included 2423 individuals (1642 suspected index cases and 781 family cases). Only patients with confirmed HAE types I or II (n = 499) were included in the final analysis; acquired angioedema/<em>F12</em> gene variants were excluded. Eight clinical variables were identified as independent predictors of HAE: age at onset ≤20 years, recurrent limb edema, abdominal pain, vomiting, trauma as a trigger, absence of wheals, family history of angioedema, and recurrent edema lasting ≥24 hours. The predictive score demonstrated favorable performance in identifying HAE cases within the index population (range, 0-18.5), with low scores (1.5-6.5) associated with high sensitivity (100%) and negative predictive value (100%), and high scores (≥15) associated with high specificity (99.4%) and positive predictive value (75.0%).</div></div><div><h3>Conclusions</h3><div>The predictive HADES offers a simple and efficient method for improving testing for suspicion of HAE by using clinical parameters. Further validation studies are required to confirm its reliability and accuracy.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100414"},"PeriodicalIF":0.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153888","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}
引用次数: 0
Subcutaneous immunotherapy in a patient taking ofatumumab for multiple sclerosis and upadacitinib for atopic dermatitis
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-17 DOI: 10.1016/j.jacig.2025.100411
Twan Sia BA , Leeon Bacchus BA , Stanley Liu BS , John Leung MD
{"title":"Subcutaneous immunotherapy in a patient taking ofatumumab for multiple sclerosis and upadacitinib for atopic dermatitis","authors":"Twan Sia BA ,&nbsp;Leeon Bacchus BA ,&nbsp;Stanley Liu BS ,&nbsp;John Leung MD","doi":"10.1016/j.jacig.2025.100411","DOIUrl":"10.1016/j.jacig.2025.100411","url":null,"abstract":"<div><div>Allergen-specific immunotherapy has not been well-studied in the setting of increasingly common immune system-targeting medications. Subcutaneous immunotherapy may not be contraindicated in patients taking anti-CD20 mAbs antibodies and/or Janus kinase inhibitors.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100411"},"PeriodicalIF":0.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135144","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}
引用次数: 0
Elevated mepolizumab levels in patients with severe asthma responsive to 1 year’s mepolizumab treatment
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-16 DOI: 10.1016/j.jacig.2025.100410
Takayasu Nishimaki MD , Hitoshi Sasano MD, PhD , Sonoko Harada PhD , Tomohito Takeshige MD, PhD , Yuuki Sandhu MD, PhD , Yuki Tanabe MD , Kei Matsuno MD, PhD , Tetsutaro Nagaoka MD, PhD , Jun Ito MD, PhD , Ryo Atsuta MD, PhD , Mayu Ohuchi PhD , Shigehiro Yagishita MD, PhD , Akinobu Hamada PhD , Kazuhisa Takahashi MD, PhD , Norihiro Harada MD, PhD
{"title":"Elevated mepolizumab levels in patients with severe asthma responsive to 1 year’s mepolizumab treatment","authors":"Takayasu Nishimaki MD ,&nbsp;Hitoshi Sasano MD, PhD ,&nbsp;Sonoko Harada PhD ,&nbsp;Tomohito Takeshige MD, PhD ,&nbsp;Yuuki Sandhu MD, PhD ,&nbsp;Yuki Tanabe MD ,&nbsp;Kei Matsuno MD, PhD ,&nbsp;Tetsutaro Nagaoka MD, PhD ,&nbsp;Jun Ito MD, PhD ,&nbsp;Ryo Atsuta MD, PhD ,&nbsp;Mayu Ohuchi PhD ,&nbsp;Shigehiro Yagishita MD, PhD ,&nbsp;Akinobu Hamada PhD ,&nbsp;Kazuhisa Takahashi MD, PhD ,&nbsp;Norihiro Harada MD, PhD","doi":"10.1016/j.jacig.2025.100410","DOIUrl":"10.1016/j.jacig.2025.100410","url":null,"abstract":"<div><h3>Background</h3><div>Asthma involves variable airflow limitation and persistent airway inflammation. Eosinophilic asthma, characterized by cytokine-mediated type 2 inflammation, is generally treated with inhaled corticosteroids. However, patients with severe asthma may require biologics, such as mepolizumab, which targets IL-5 and can manage uncontrolled eosinophilic asthma.</div></div><div><h3>Objective</h3><div>We investigated the relationship between serum mepolizumab concentrations and treatment response in patients with severe asthma.</div></div><div><h3>Methods</h3><div>Patients with mepolizumab-treated severe asthma were enrolled onto this prospective cohort study. Baseline assessments were conducted and repeated at 3, 6, and 12 months. Those with response were categorized on the basis of improvements in asthma control test score, lung function, and asthma exacerbations. We quantified the serum concentration of mepolizumab at 3, 6, and 12 months after treatment by liquid chromatography coupled with tandem mass spectrometry.</div></div><div><h3>Results</h3><div>Twenty-five adult patients aged 20 years and older with severe asthma were included in the analysis. Serum mepolizumab concentrations significantly increased at 6 and 12 months compared with those at 3 months, particularly in those with disease that responded to therapy. Furthermore, the relative change in mepolizumab concentration was significantly higher in those with response than in those with no response. Body size parameters were negatively correlated with mepolizumab concentration. In those with response, there were inverse correlations between mepolizumab concentration and baseline body size parameters.</div></div><div><h3>Conclusions</h3><div>The study observed a yearlong increase in mepolizumab concentrations, particularly in those with response, indicating a potential mepolizumab surplus. Correlations between mepolizumab concentrations and baseline characteristics suggested differing mepolizumab requirements between those with response and those with no response. Further research is needed to validate these findings and optimize treatment strategies for patients with severe asthma.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100410"},"PeriodicalIF":0.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153853","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}
引用次数: 0
Effectiveness of dupilumab treatment against refractory eosinophilic chronic rhinosinusitis
The journal of allergy and clinical immunology. Global Pub Date : 2025-01-16 DOI: 10.1016/j.jacig.2025.100412
Daiki Nakashima MD , Tsuguhisa Nakayama MD, PhD , Shunsuke Minagawa MD, PhD , Tetsuya Adachi MD, PhD , Chieko Mitsuyama MD , Yoko Shida MD , Tsuneya Nakajima MD, PhD , Shin-ichi Haruna MD, PhD , Yoshinori Matsuwaki MD, PhD
{"title":"Effectiveness of dupilumab treatment against refractory eosinophilic chronic rhinosinusitis","authors":"Daiki Nakashima MD ,&nbsp;Tsuguhisa Nakayama MD, PhD ,&nbsp;Shunsuke Minagawa MD, PhD ,&nbsp;Tetsuya Adachi MD, PhD ,&nbsp;Chieko Mitsuyama MD ,&nbsp;Yoko Shida MD ,&nbsp;Tsuneya Nakajima MD, PhD ,&nbsp;Shin-ichi Haruna MD, PhD ,&nbsp;Yoshinori Matsuwaki MD, PhD","doi":"10.1016/j.jacig.2025.100412","DOIUrl":"10.1016/j.jacig.2025.100412","url":null,"abstract":"<div><h3>Background</h3><div>Eosinophilic chronic rhinosinusitis (ECRS) is a subgroup of chronic rhinosinusitis with nasal polyps (CRSwNP), which is a disease characterized by eosinophilic infiltration of the sinonasal mucosa. Few studies that reported the effect of dupilumab on CRSwNP focused on a single phenotype of CRSwNP, such as ECRS.</div></div><div><h3>Objectives</h3><div>This study aimed to determine the effectiveness of dupilumab in ECRS with postoperative recurrence.</div></div><div><h3>Methods</h3><div>We retrospectively enrolled 107 patients and assessed the effectiveness of dupilumab by various clinical outcomes. We performed multivariable analysis on nasal polyp score (NPS) and computed tomography score and a meta-analysis of the effect of dupilumab on chronic rhinosinusitis regarding improvement in the NPS.</div></div><div><h3>Results</h3><div>At 12 months of dupilumab treatment, there were 65 patients (60.7%) in the excellent response group and 42 (39.3%) in the moderate response group. Nasal polyps had disappeared in 91 patients (85.9%) at 12 months, and there was improvement in all end points; 104 patients (97.2%) were able to eliminate systemic corticosteroid therapy. In the multivariate analysis, male sex was significantly associated with patients who did not show an improvement to 0 in the NPS and computed tomography score (odds ratios: 7.58 and 2.45; <em>P</em> = .01 and <em>P</em> = .04, respectively). The meta-analysis showed that dupilumab treatment resulted in a trend toward better improvement in the NPS (mean difference = −5.41) than previously reported results.</div></div><div><h3>Conclusions</h3><div>Dupilumab shows effectiveness in treating ECRS and could serve as an alternative therapeutic option to systemic corticosteroids. This effectiveness may be further enhanced by limiting the target population to recurrent ECRS.</div></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"4 2","pages":"Article 100412"},"PeriodicalIF":0.0,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143348005","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}
引用次数: 0
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