Annals of Allergy Asthma & Immunology最新文献

英文中文

Clinical and genetic findings of individuals tested using the navigateAPDS genetic testing program 通过navigateAPDS基因检测计划测试的个体的临床和遗传发现。

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2025-07-22 DOI: 10.1016/j.anai.2025.07.015

Emily Campbell MD , Jenny Garkaby MD , Julia Upton MD , Nami Park PharmD , Mike Samad MD , Michelle Hogue MS , Joseph R. Harper PharmD , Anurag Relan MD , Heather McLaughlin PhD , Kelli W. Williams MD, MPH

Background

Inborn errors of immunity (IEIs), including activated phosphoinositide-3-kinase delta syndrome (APDS), are underdiagnosed due to factors including heterogenous clinical manifestations, lack of awareness, and limited genetic testing access. Genetic testing may establish the molecular diagnosis (MolDx) of numerous IEIs, which may result in management changes.

Objective

To investigate the clinical utility of the navigateAPDS sponsored program established to increase MolDx of APDS through broad genetic testing.

Methods

The eligibility criteria to receive sponsored testing included APDS clinical features.

Results

Between March 2021 and September 2024, a total of 7811 patients across the United States and Canada underwent genetic testing. The median age at time of testing was 33 (range, 0-89) years, and the most selected eligibility criterion was severe, recurrent sinopulmonary infections. Of the 630 patients who received a positive MolDx, 377 (60%) had disorder-associated clinical actionability; 73 (12%) had Food and Drug Administration–approved treatments available. The most identified IEIs included genetically defined common variable immune deficiency and APDS. Of the patients with variants in PIK3CD or PIK3R1, 35 received an APDS MolDx and 131 received a variant of uncertain significance (VUS). Patients with APDS had a median age at time of symptom onset of 3 (range, 0-44) years and a median diagnostic delay of 13 (range, 0-50) years. Of the 13 APDS-causing variants identified, 5 were novel for APDS.

Conclusion

These findings demonstrate that broad genetic testing for IEIs is useful and may contribute to disease management changes and improved health outcomes. Variant identification and VUS resolution are crucial in elucidating the genetic contribution to the clinical spectrum of IEIs and APDS.

背景：先天性免疫错误（IEI），包括活化PI3Kδ综合征（APDS），由于临床表现异质性、缺乏认识和基因检测途径有限等因素，未被充分诊断。基因检测可以建立许多iei的分子诊断（MolDx），这可能导致管理的改变。目的：建立导航APDS赞助计划，通过广泛的基因检测提高APDS的MolDx；在这里，我们研究了它的临床应用。方法：接受赞助检测的资格标准包括APDS临床特征。结果：在2021年3月至2024年9月期间，美国和加拿大的7811名患者接受了基因检测。检测时的中位年龄为33岁（范围0-89岁），大多数选择的合格标准是严重的复发性肺感染。在接受MolDx阳性的630例患者中，377例（60%）具有与疾病相关的临床可操作性；73例（12%）有fda批准的治疗方法。最确定的iei包括遗传定义的常见可变免疫缺陷和APDS。在PIK3CD或PIK3R1变异的患者中，35人接受了APDS MolDx， 129人接受了不确定意义变异（VUS）。APDS患者出现症状时的中位年龄为3岁（范围0-44岁），诊断延迟的中位年龄为13年（范围0-50年）。在鉴定出的13种引起APDS的变异中，有5种是APDS的新变异。结论：这些发现表明，对iei进行广泛的基因检测是有用的，可能有助于改变疾病管理和改善健康结果。变异鉴定和VUS分辨率对于阐明iei和APDS临床谱的遗传贡献至关重要。

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引用次数: 0

“Ask and you shall receive”: Implications of sponsored genetic testing programs for inborn errors of immunity (IEIs) “要求你就会得到”：赞助基因检测项目对先天免疫缺陷（IEIs）的影响

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2026-02-02 DOI: 10.1016/j.anai.2025.11.021

Xiao P. Peng MD, PhD , Jahnavi Aluri PhD , Keith Sacco MD , Roshini S. Abraham PhD

引用次数: 0

Risk factors and challenge outcomes in trimethoprim-sulfamethoxazole hypersensitivity in HIV-negative patients HIV阴性患者甲氧苄啶-磺胺甲恶唑超敏反应的危险因素和挑战结果：一项多中心回顾性报告。

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2025-09-18 DOI: 10.1016/j.anai.2025.09.008

Susan Kinate PA , Ricardo J. Estrada-Mendizabal MD , Dayne Voelker MD , Christine R.F. Rukasin MD , Saiyara Shama MD , Ebram N. Labib MD , Matthew A. Rank MD , Miguel A. Park MD , Alexei Gonzalez-Estrada MD

Background

Contemporary drug allergy practice parameters suggest performing trimethoprim-sulfamethoxazole (TMP-SMX) challenges in patients with a sulfa allergy label (SAL).

Objective

To evaluate the safety of TMP-SMX challenges and risk factors for confirmed TMP-SMX allergy by challenge in a large cohort.

Methods

Retrospective data review from all consecutive TMP-SMX challenges in patients with HIV-negative SAL performed between 2017 and 2022 across all 4 Mayo Clinic sites. Independent variables included demographics, index reaction history, etc. Univariate and multivariable logistic regression analyses with challenge outcome as the dependent variables were performed.

Results

Among 348 patients (mean age, 58.9 years; 76% female), 29 (8%) had a positive objective challenge result and an additional 33 (9%) reported subjective symptoms. Most patients underwent 2-step challenges (57%). Rash occurred in 8%, and 3 patients (0.9%) received epinephrine. In multivariable analysis, recent index reactions (<5 years) (odds ratio [OR] 3.17; 95% CI, 1.03-8.66) and immediate-onset (<6 hours) reactions (OR 3.67; 95% CI, 1.10-10.62) were independently associated with a positive objective challenge result. For subjective symptoms during challenges, multi-drug intolerance syndrome (OR 3.33; 95% CI, 1.45-7.64) and myalgias (OR 17.43; 95% CI, 1.38-419.36) were significant predictors of a positive subjective challenge result. Two patients (0.6%) required emergency department evaluation post-challenge; 1 for transient epinephrine-related symptoms and 1 for infection concerns requiring brief admission.

Conclusion

In this large cohort, 319 of 348 patients (92%) with a SAL tolerated a TMP-SMX challenge. TMP-SMX challenges are safe with less than 1% of patients receiving intramuscular epinephrine. Patients with SAL with immediate index reactions occurring within 5 years of evaluation were more likely to have TMP-SMX allergy confirmed.

背景：当代药物过敏实践参数建议对有磺胺过敏标签（SAL）的患者进行甲氧苄啶-磺胺甲恶唑（TMP-SMX）挑战。目的：在大队列研究中，探讨经激射确认的TMP-SMX过敏的安全性和危险因素。方法：回顾性分析2017年至2022年在所有4个梅奥诊所进行的HIV阴性SAL患者的所有连续TMP-SMX挑战的数据。自变量包括人口统计、指数反应史等。我们以挑战结果为因变量进行单变量和多变量logistic回归分析。结果：在348例患者（平均年龄58.9岁，76%为女性）中，29例（8%）有客观阳性挑战，另外33例（9%）报告主观症状。大多数患者接受了两步挑战（57%）。皮疹发生率为8%，3例（0.9%）患者接受肾上腺素治疗。在多变量分析中，最近的指数反应(结论：在这个大队列中，348例SAL患者中有319例（92%）耐受TMP-SMX攻击。TMP-SMX挑战是安全的

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引用次数: 0

Authors’ response 作者的回应

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2026-02-02 DOI: 10.1016/j.anai.2025.11.015

Sara Anvari MD, MSc , Malika Gupta MD , Rory Nicolaides MD , Hideaki Morita MD, PhD , Julia Upton MD, MPH , Pooja Varshney MD , Melanie Ruffner MD, PhD , Mary Grace Baker MD, MS

引用次数: 0

Inhaled corticosteroid (ICS) adherence after exacerbations 急性发作后吸入性皮质类固醇（ICS）依从性

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2026-02-02 DOI: 10.1016/j.anai.2025.10.027

Jack Jeskey DO, Juan Carlos Cardet MD, MPH

引用次数: 0

Safely subtracting sulfa allergy: It's time 安全减磺胺过敏：是时候了

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2026-02-02 DOI: 10.1016/j.anai.2025.10.014

Allison Ramsey MD

引用次数: 0

The Gardener 园丁

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2026-02-02 DOI: 10.1016/j.anai.2025.08.011

Erin L. Reigh MD, MS

引用次数: 0

Impact of varying childhood asthma definitions on incidence and clinical outcomes 不同儿童哮喘定义对发病率和临床结果的影响。

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2025-08-14 DOI: 10.1016/j.anai.2025.08.006

Amir Ghabousian MD, Gisele N. Bezerra MD, Zhaozhong Zhu SCD, Janice A. Espinola MPH, Ashley F. Sullivan MS, MPH, Carlos A. Camargo Jr MD, DrPH

Background

The absence of a standardized asthma definition in epidemiologic studies undermines the consistency of incidence estimates and the comparability of clinical outcomes.

Objective

To evaluate the impact of integrating bronchodilator response (BDR) into parent-reported asthma definitions by comparing incidence, disease severity, control, and diagnostic performance across these definitions, and to assess the individual diagnostic performance of BDR and fractional exhaled nitric oxide in identifying asthma cases.

Methods

We used data from a prospective cohort of 919 infants with severe (hospitalized) bronchiolitis to explore 4 asthma definitions: (1) broad, any physician diagnosis of asthma by age 6 years, as reported by parents; (2) epidemiologic, definition 1 plus either asthma medication use (eg, inhaled bronchodilator, inhaled corticosteroid, systemic corticosteroid, and montelukast) or asthma-related symptoms between ages 5.0 and 5.9 years; (3) alternative strict, definition 2 plus a post-BDR increase of 8% or greater in predicted forced expiratory volume in 1 second; and (4) strict, definition 2 plus a post-bronchodilator increase of more than 10% in predicted forced expiratory volume in 1 second. Outcomes were assessed across these definitions, and their diagnostic performance was compared with a physician reviewer’s asthma diagnosis (reference standard).

Results

The incidence rates for the 4 definitions were 37.2%, 27.7%, 13.2%, and 9.3%, respectively, with intermittent asthma severity classification following a similar pattern (72.4%, 65.5%, 56.0%, and 52.8%). Transitioning from the first to the fourth definition improved specificity and positive predictive value but reduced sensitivity, with no consistent trends being observed for asthma control across definitions.

Conclusion

These findings suggest that incorporating BDR into parent-reported asthma definitions underestimates asthma incidence and identifies cases with worse clinical outcomes.

背景：流行病学研究中缺乏标准化的哮喘定义破坏了发病率估计的一致性和临床结果的可比性。目的：我们通过比较这些定义的发病率、疾病严重程度、控制和诊断表现，评估将支气管扩张剂反应（BDR）纳入父母报告的哮喘定义的影响。我们还评估了BDR和分数呼气一氧化氮（FeNO）在识别哮喘病例中的个体诊断性能。方法：我们利用919例重症（住院）毛细支气管炎婴儿的前瞻性队列数据，探讨四种哮喘定义：1)广泛的，任何医生诊断的哮喘，在6岁时，由父母报告；2)流行病学，定义1加上哮喘药物使用（例如，吸入支气管扩张剂、吸入皮质类固醇、全身皮质类固醇、孟鲁司特）或哮喘相关症状，年龄在5.0-5.9岁之间；3)另一种严格的定义2加上支气管扩张剂后预测1秒用力呼气量（FEV1）增加≥8%；4)严格定义2加上支气管扩张剂后预测FEV1增加10%。通过这些定义评估结果，并将其诊断性能与医师审稿人的哮喘诊断（参考标准）进行比较。结果：四种定义的发病率分别为37.2%、27.7%、13.2%和9.3%，间歇性哮喘的严重程度分类也有相似的模式（72.4%、65.5%、56.0%和52.8%）。从第一种定义过渡到第四种定义提高了特异性和阳性预测值，但降低了敏感性，在不同定义的哮喘控制方面没有观察到一致的趋势。结论：这些发现表明，将BDR纳入父母报告的哮喘定义低估了哮喘发病率，并识别出临床结果较差的病例。

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引用次数: 0

Sex-based differences in perioperative hypersensitivity 围手术期超敏反应的性别差异：系统回顾和荟萃分析。

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2025-10-24 DOI: 10.1016/j.anai.2025.10.012

Ricardo J. Estrada-Mendizabal MD , Payge Moraca DO , Alfonso J. Castillo-Ivon , Jennifer Priessnitz MD , Ebram N. Labib MD , Saiyara S. Shama MBBS , Nisha B. Patel MD , Lisa A. Marks MLS, AHIP , Sergio E. Chiarella MD , Vito Sabato MD , Christine R.F. Rukasin MD , Gerald W. Volcheck MD , Alexei Gonzalez-Estrada MD

Background

Perioperative hypersensitivity (POH) is a rare, immediate hypersensitivity reaction. Its more severe form, perioperative anaphylaxis, has a 2% mortality rate. Sex is a biological variable that can affect the immune response, but its role in POH remains unclear. We aimed to assess sex-based differences in POH and explore potential differences by age, culprit drugs, and reaction severity.

Objective

To systematically assess sex-based differences in the proportion of POH and assess variations by age group, suspected culprit drugs, and reaction severity.

Methods

A systematic search was conducted in MEDLINE, EMBASE, Scopus, and Web of Science. Cohort, retrospective, prospective, and cross-sectional studies reporting the female-to-male ratio of POH patients were included. A proportional meta-analysis using an inverse-variance method with logit transformation was performed to calculate pooled sex proportions. Subgroup analyses were conducted based on age, culprit drugs, and severity grading.

Results

A total of 62 studies comprising 19,944 patients (63% female) were included. The pooled proportion of female-to-male patients with POH was 0.60 (95% CI: 0.57-0.63; 95% prediction interval: 0.40-0.78). Subgroup analysis revealed a higher female predominance in adults, 0.59 (95% CI: 0.55-0.62), whereas males predominated in pediatric studies (0.41; 95% CI: 0.36-0.47).

Conclusion

We found a female predominance of POH overall, though males had a higher proportion in pediatric studies, possibly due to chromosomal factors influencing POH rates before adolescence. In adulthood, hormonal changes may contribute to the observed female predominance. Further research is needed to explore the mechanisms behind the observed differences.

背景：围手术期超敏反应（POH）是一种罕见的即时超敏反应。其更严重的形式，围手术期过敏反应，死亡率为2%。性别是影响免疫反应的生物学变量，但其在POH中的作用尚不清楚。我们的目的是评估POH的性别差异，并探讨年龄、罪魁祸首药物和反应严重程度的潜在差异。目的：系统评估围手术期超敏反应比例的性别差异，并评估不同年龄组、疑似元凶药物和反应严重程度的差异。方法：系统检索MEDLINE、EMBASE、Scopus、Web of Science。纳入了报告POH患者男女比例的队列、回顾性、前瞻性和横断面研究。采用logit变换的反方差法进行比例荟萃分析，计算合并性别比例。根据年龄、罪魁祸首药物和严重程度分级进行亚组分析。结果：纳入63项研究，包括19,981例患者（62%为女性）。POH患者男女比例合计为0.60 （95% CI: 0.57-0.63； 95%预测区间：0.40-0.77）。亚组分析显示，在成人研究中，女性优势较高，为0.58 (95% CI: 0.54-0.62)，而在儿科研究中，男性优势较高（0.41,95% CI: 0.36-0.46）。结论：我们发现POH总体上以女性为主，尽管在儿科研究中男性的比例更高，可能是由于染色体因素影响青春期前的POH发病率。在成年期，激素的变化可能导致观察到的女性优势。需要进一步的研究来探索所观察到的差异背后的机制。

{"title":"Sex-based differences in perioperative hypersensitivity","authors":"Ricardo J. Estrada-Mendizabal MD , Payge Moraca DO , Alfonso J. Castillo-Ivon , Jennifer Priessnitz MD , Ebram N. Labib MD , Saiyara S. Shama MBBS , Nisha B. Patel MD , Lisa A. Marks MLS, AHIP , Sergio E. Chiarella MD , Vito Sabato MD , Christine R.F. Rukasin MD , Gerald W. Volcheck MD , Alexei Gonzalez-Estrada MD","doi":"10.1016/j.anai.2025.10.012","DOIUrl":"10.1016/j.anai.2025.10.012","url":null,"abstract":"<div><h3>Background</h3><div>Perioperative hypersensitivity (POH) is a rare, immediate hypersensitivity reaction. Its more severe form, perioperative anaphylaxis, has a 2% mortality rate. Sex is a biological variable that can affect the immune response, but its role in POH remains unclear. We aimed to assess sex-based differences in POH and explore potential differences by age, culprit drugs, and reaction severity.</div></div><div><h3>Objective</h3><div>To systematically assess sex-based differences in the proportion of POH and assess variations by age group, suspected culprit drugs, and reaction severity.</div></div><div><h3>Methods</h3><div>A systematic search was conducted in MEDLINE, EMBASE, Scopus, and Web of Science. Cohort, retrospective, prospective, and cross-sectional studies reporting the female-to-male ratio of POH patients were included. A proportional meta-analysis using an inverse-variance method with logit transformation was performed to calculate pooled sex proportions. Subgroup analyses were conducted based on age, culprit drugs, and severity grading.</div></div><div><h3>Results</h3><div>A total of 62 studies comprising 19,944 patients (63% female) were included. The pooled proportion of female-to-male patients with POH was 0.60 (95% CI: 0.57-0.63; 95% prediction interval: 0.40-0.78). Subgroup analysis revealed a higher female predominance in adults, 0.59 (95% CI: 0.55-0.62), whereas males predominated in pediatric studies (0.41; 95% CI: 0.36-0.47).</div></div><div><h3>Conclusion</h3><div>We found a female predominance of POH overall, though males had a higher proportion in pediatric studies, possibly due to chromosomal factors influencing POH rates before adolescence. In adulthood, hormonal changes may contribute to the observed female predominance. Further research is needed to explore the mechanisms behind the observed differences.</div></div>","PeriodicalId":50773,"journal":{"name":"Annals of Allergy Asthma & Immunology","volume":"136 2","pages":"Pages 195-203.e4"},"PeriodicalIF":4.7,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145370377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Severe food protein-induced enterocolitis syndrome with seizures and concern for developmental delay: A case report 严重食物蛋白诱导的肠结肠炎综合征伴癫痫发作并关注发育迟缓：1例报告。

IF 4.7 2区医学 Q1 ALLERGY

Annals of Allergy Asthma & Immunology

Pub Date : 2026-02-01 Epub Date: 2025-11-04 DOI: 10.1016/j.anai.2025.10.028

Benjamin Martinez MD , Shatha Alhamdi MBBS , Julia E.M. Upton MD, MPH

引用次数: 0

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