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Uncommon causal variants of the ADA2 gene in patients with reduced enzyme activity and nonconfirmatory genetic testing 酶活性降低和非确证性基因检测患者中ADA2基因不常见的因果变异。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.11.026
Alice Grossi PhD , Alessia Cafaro PhD , Marta Rusmini PhD , Francesca Rosamilia PhD , Michela Malacarne MSc , Barbara Testa MSc , Michela Lupia MSc , Maria Carla Giarratana MD , Maurizio Miano MD , Federica Barzaghi MD, PhD , Roberta Caorsi MD , Chiara Conti MD , Diego Vozzi MSc , Paolo Uva PhD , Giuliana Cangemi PhD , Carlo Dufour MD , Marco Gattorno MD , Isabella Ceccherini PhD
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引用次数: 0
Uptake of oral immunotherapy and omalizumab for management of food allergy in clinical practice 口服免疫治疗和奥玛珠单抗在临床治疗食物过敏中的应用。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.12.006
S. Shahzad Mustafa MD , Richard Kraude PhD , Sara Patrawala MD , Peter Capucilli MD , Linh-An Tuong MD, MSc , Denise Sanchez-Tejera MD , Allison Ramsey MD
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引用次数: 0
Reply to “Association of Asthma and Rheumatoid Arthritis: Conundrum Still Unsolved” 回复“哮喘与类风湿关节炎的关联:尚未解决的难题”
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.11.037
Richard P. Ramonell MD , Patricia Choi MD , Marc C. Gauthier MD , Merritt L. Fajt MD , Anuradha Ray PhD , Sally E. Wenzel MD
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引用次数: 0
Updates on Kinase Inhibitors in Allergy 激酶抑制剂在过敏中的最新进展。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.10.047
Melanie C. Dispenza MD, PhD , Brian S. Kim MD
Kinase inhibitors are emerging as transformative therapeutic agents in allergy. Advances in drug design have produced highly selective inhibitors with improved safety and efficacy, extending their clinical use beyond oncologic indications to the treatment of immune-mediated and hypersensitivity disorders. Bruton’s tyrosine kinase inhibitors offer rapid, on-demand control of IgE-mediated reactivity and are approved for use in chronic urticaria. Janus kinase inhibitors demonstrate potent anti-inflammatory and anti-pruritic effects in atopic dermatitis and may expand into other chronic itch disorders. KIT inhibitors, both mutant- and wild type–specific, are redefining treatment possibilities for mastocytosis and chronic urticaria through mast cell suppression. This review highlights recent progress in the development and application of these drugs in allergic diseases. We summarize the mechanistic rationale for targeting each pathway, review pivotal clinical trial findings, and discuss safety profiles and practical considerations for clinical use. Collectively, these inhibitors are important additions to the therapeutic options in immune-mediated disorders.
激酶抑制剂正在成为变革性的过敏症治疗药物。药物设计的进步产生了安全性和有效性更高的高选择性抑制剂,从而将其临床应用范围从肿瘤适应症扩展到免疫介导和超敏性疾病的治疗。Bruton的酪氨酸激酶(BTK)抑制剂提供快速,按需控制ige介导的反应性,现在被批准用于慢性荨麻疹。Janus激酶(JAK)抑制剂在特应性皮炎中显示出有效的抗炎和抗瘙痒作用,并可能扩展到其他慢性瘙痒疾病。KIT抑制剂,无论是突变型还是野生型特异性,都通过肥大细胞抑制来重新定义肥大细胞增多症和慢性荨麻疹的治疗可能性。本文综述了近年来这些药物在变态反应性疾病中的开发和应用进展。我们总结了针对每个途径的机制原理,回顾了关键的临床试验结果,并讨论了临床使用的安全性和实际考虑因素。总的来说,这些抑制剂是免疫介导性疾病治疗选择的重要补充。
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引用次数: 0
The Skin Tells the Story: Early Signs of Inborn Errors of Immunity 皮肤能说明问题:先天免疫缺陷的早期迹象。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.11.014
Zeynep Meric MD , Betul Kosa MD , Betul Gemici Karaaslan MD , Sezin Aydemir MD , Muhammed Aydin MD , Dilan Demir Gumus MD , Nergis Akay MD , Emre Ozer MD , Ahmet Kan MD , Sevgi Sipahi Çimen MD , Muhlis Cem Ar MD , Ayse Deniz Yucelten MD , Ozgur Kasapcopur MD , Tugba Kevser Uzuncakmak MD , Esra Yucel MD , Ayca Kiykim MD

Background

Inborn errors of immunity (IEIs) comprise a heterogeneous group of more than 500 genetic disorders, often presenting with recurrent infections, autoimmunity, malignancies, allergic inflammation, and various skin manifestations.

Objective

To evaluate the prevalence, phenotypes, and treatment responses of skin manifestations in IEIs.

Methods

Patient data from 2018 to 2024 were retrospectively analyzed in a single-center cohort from Turkey and classified according to the 2024 report of the International Union of Immunological Societies. Recorded skin manifestations included atopic dermatitis–like lesions, infections, granulomas, pigmentary abnormalities, vascular changes, and autoimmune lesions.

Results

Among 389 patients with IEIs, 155 (39.8%) exhibited skin manifestations, with 48.3% presenting as an initial symptom. The median (interquartile range) age at onset of skin manifestations was 8.5 (2.2-84) months, whereas the median age at referral was 84 (19-174) months. The predominant IEI categories were combined immunodeficiencies with associated or syndromic features (21%) and immunodeficiencies affecting cellular and humoral immunity (20.5%). Cutaneous manifestations were most frequent in congenital phagocyte defects (56.8%). Predominant skin manifestations included infections (59.3%), atopic dermatitis–like lesions (37.4%), and chronic mucocutaneous candidiasis (16.7%). During the median follow-up period of 44 (17-68) months, the most common comorbidities were recurrent sinopulmonary infections (67.3%) and growth delay (50.6%). Biological agents were administered to 11.6% of patients, whereas 20% underwent hematopoietic stem cell transplantation.

Conclusions

Skin manifestations are common and often early indicators of IEIs. Their coexistence with recurrent infections or growth delay should prompt immunologic evaluation. Early recognition may facilitate timely diagnosis, targeted treatment, and improved long-term outcomes.
背景:先天性免疫错误(IEIs)由500多种遗传性疾病组成,通常表现为复发性感染、自身免疫、恶性肿瘤、过敏性炎症和各种皮肤表现。目的:本研究旨在评估IEI患者皮肤表现的患病率、表型和治疗反应。方法:回顾性分析2018-2024年土耳其单中心队列患者数据,并根据国际免疫学会联合会(IUIS) 2024年报告进行分类。记录的皮肤表现包括ad样病变、感染、肉芽肿、色素异常、血管改变和自身免疫性病变。结果:389例IEI患者中,155例(39.8%)有皮肤表现,其中48.3%为首发症状。出现皮肤症状的中位年龄(IQR)为8.5(2.2-84)个月,而转诊时的中位年龄为84(19-174)个月。主要的IEI类别是合并免疫缺陷与相关或综合征特征(21%)和影响细胞和体液免疫的免疫缺陷(20.5%)。先天性吞噬细胞缺陷以皮肤表现最为常见(56.8%)。主要的皮肤表现包括感染(59.3%)、ad样病变(37.4%)和慢性皮肤粘膜念珠菌病(16.7%)。在44(17-68)个月的中位随访期间,最常见的合并症是复发性肺感染(67.3%)和生长迟缓(50.6%)。11.6%的患者接受了生物制剂治疗,20%的患者接受了造血干细胞移植。结论:皮肤表现是IEI常见的早期症状。它们与复发性感染或生长迟缓共存时应进行免疫学评估。早期识别可能有助于及时诊断,有针对性的治疗和改善长期结果。
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引用次数: 0
Systemic Therapy for Atopic Dermatitis: Choosing Biologics or Janus Kinase Inhibitors for Children and Adults 特应性皮炎的全身治疗:儿童和成人选择生物制剂或Janus激酶抑制剂。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.10.052
Irene M. Scholl MD , Aaron M. Drucker MD, PhD , Carsten Flohr MD, PhD , Louise A.A. Gerbens MD, PhD
Atopic dermatitis is a highly prevalent chronic inflammatory skin disease worldwide, with a significant burden on patients’ quality of life. Although most patients with atopic dermatitis are effectively managed with topical treatments, a significant minority requires systemic therapy. In recent years, the therapeutic landscape for this patient population has expanded beyond conventional treatments, introducing novel targeted therapies such as biologic agents and Janus kinase inhibitors. These novel therapies vary in aspects such as efficacy, safety profile, route of administration, monitoring requirements, and impact on comorbidities, necessitating individualized treatment decision-making. As a result, selecting the most appropriate therapy can be challenging. This article provides a practical overview of the current targeted therapies to support informed clinical decision-making regarding treatment selection, monitoring, and dosing considerations.
特应性皮炎(AD)是一种全球高度流行的慢性炎症性皮肤病,严重影响患者的生活质量。虽然大多数AD患者可以通过局部治疗得到有效治疗,但也有少数患者需要全身治疗。近年来,针对该患者群体的治疗方案已经扩展到传统治疗之外,引入了新的靶向治疗,如生物制剂和Janus激酶(JAK)抑制剂。这些新疗法在疗效、安全性、给药途径、监测要求和对合并症的影响等方面各不相同,需要个性化的治疗决策。因此,选择最合适的治疗方法是具有挑战性的。本文提供了当前靶向治疗的实用概述,以支持关于治疗选择、监测和剂量考虑的知情临床决策。
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引用次数: 0
Overview of Biologics Targeting Type 2 Inflammation in Respiratory Disease 针对呼吸系统疾病中2型炎症的生物制剂综述
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.12.011
Whitney W. Stevens MD, PhD , Michael E. Wechsler MD , Tara F. Carr MD
The development, introduction, and widespread use of type 2–targeting biologics for respiratory disease has been of dramatic and unprecedented benefit to patients, improving disease control, reducing morbidity, and allowing for avoidance of more toxic therapies such as reliance on chronic systemic corticosteroids. Developed to treat more severe forms of asthma, the available biologics—benralizumab, dupilumab, mepolizumab, omalizumab, reslizumab, and tezepelumab—have been successfully applied to treat other diseases of the upper and lower airways. Indeed, multiple different biologics are now approved by the Food and Drug Administration for each general clinical indication: severe asthma, chronic obstructive pulmonary disease, eosinophilic granulomatosis with polyangiitis, and chronic rhinosinusitis with nasal polyposis. Clinically, the selection of a type 2–targeting biologic for respiratory disease starts with the confirmation of a specific diagnosis, assessment of responsiveness to previous medical (and surgical) therapies, and determination whether underlying type 2 inflammation is present. Other critical considerations include route of administration, accessibility, insurance coverage, and patient preference. In some cases, there may be only 1 biologic available for a patient. However, as often is the case, patients may indeed qualify for, or potentially benefit from, more than 1 treatment. Selecting the right treatment—that which is most effective—can be a challenge. In this review, we provide practical and evidence-based recommendations about selecting a type 2 biologic across the spectrum of respiratory diseases.
针对呼吸系统疾病的2型靶向生物制剂的开发、引入和广泛使用已经给患者带来了巨大的、前所未有的益处,改善了疾病控制,降低了发病率,并允许避免毒性更大的治疗,如依赖慢性全身性皮质类固醇。开发用于治疗更严重形式的哮喘,现有的生物制剂- benralizumab, dupilumab, mepolizumab, omalizumab, reslizumab和tezepelumab-已成功应用于治疗上呼吸道和下呼吸道的其他疾病。事实上,多种不同的生物制剂现在被FDA批准用于每一种一般临床适应症:严重哮喘、慢性阻塞性肺病、嗜酸性肉芽肿病合并多血管炎和慢性鼻窦炎合并鼻息肉病。临床上,选择针对呼吸系统疾病的2型靶向生物制剂首先要确认特定诊断,评估对既往药物(和手术)治疗的反应性,并确定是否存在潜在的2型炎症。其他重要考虑因素包括给药途径、可及性、保险范围和患者偏好。在某些情况下,患者可能只有一种生物制剂可用。然而,通常情况下,患者可能确实有资格接受或潜在受益于一种以上的治疗。选择正确的治疗方法——最有效的治疗方法——可能是一个挑战。在这篇综述中,我们提供实用的和基于证据的建议,以选择2型生物跨越呼吸系统疾病的频谱。
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引用次数: 0
Menopause and Asthma Unlinked? It’s More Complicated 更年期和哮喘无关?它更复杂
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2025.12.009
Yifei Cao MM , Yunhui Zhang PhD
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引用次数: 0
Updates on the Current and Evolving Treatment for Hereditary Angioedema 遗传性血管性水肿治疗的最新进展
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2026.01.007
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引用次数: 0
Real-World Effectiveness Analysis of Preschool Cashew and Walnut Oral Immunotherapy. 学龄前腰果和核桃口服免疫治疗的实际疗效分析。
IF 6.6 1区 医学 Q1 ALLERGY Pub Date : 2026-02-01 DOI: 10.1016/j.jaip.2026.01.024
Simonne L Horwitz, Lianne Soller, Victoria E Cook, Scott B Cameron, Joanne Yeung, Sandeep Kapur, Mary McHenry, Edmond S Chan, Raymond Mak, Gregory A Rex, Tiffany Wong, Stephanie C Erdle

Clinical implications: In a real-world setting, 81.4% of preschoolers who received cashew and/or walnut OIT successfully tolerated a 4000mg follow-up oral food challenge, enabling dietary liberalization. Real-world cashew and walnut OIT should be considered as an alternative to avoidance in preschoolers.

临床意义:在现实环境中,81.4%接受腰果和/或核桃OIT的学龄前儿童成功耐受4000mg后续口服食物挑战,实现饮食自由。真实世界的腰果和核桃油应该被认为是避免学龄前儿童的替代选择。
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引用次数: 0
期刊
Journal of Allergy and Clinical Immunology-In Practice
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