The journal of allergy and clinical immunology. Global最新文献

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Running into trouble with soy: A case report and review of our shopping carts 大豆带来的麻烦病例报告和购物车回顾
The journal of allergy and clinical immunology. Global Pub Date : 2024-08-05 DOI: 10.1016/j.jacig.2024.100321
Fionnuala Cox BA Hons, MB, BCh, BAO, MRCPI, FRCPath, PhD, Khairin Khalib MBBCh, MRCPI, FRCPath, Mary Keogan MD, FRCPI, FRCPath
{"title":"Running into trouble with soy: A case report and review of our shopping carts","authors":"Fionnuala Cox BA Hons, MB, BCh, BAO, MRCPI, FRCPath, PhD,&nbsp;Khairin Khalib MBBCh, MRCPI, FRCPath,&nbsp;Mary Keogan MD, FRCPI, FRCPath","doi":"10.1016/j.jacig.2024.100321","DOIUrl":"10.1016/j.jacig.2024.100321","url":null,"abstract":"<div><p>Soy-dependent exercise-induced anaphylaxis is likely underdiagnosed and potentially on the rise. As soy gains popularity in Western diets, we highlight it as a hidden allergen in a variety of processed foods, including those marketed toward exercise enthusiasts.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100321"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001176/pdfft?md5=581a6c535387e3a56f4dfe6d4bfd83c8&pid=1-s2.0-S2772829324001176-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142050156","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
Successful treatment of the dupilumab-induced psoriatic dermatitis/arthritis and atopic dermatitis with a JAK inhibitor: A case report and literature review 用 JAK 抑制剂成功治疗杜必鲁单抗诱发的银屑病皮炎/关节炎和特应性皮炎:病例报告和文献综述
The journal of allergy and clinical immunology. Global Pub Date : 2024-08-05 DOI: 10.1016/j.jacig.2024.100323
Misuzu Tsunoda MD , Takeya Adachi MD, PhD , Yuuri Nakajima MD , Yoshihiro Yatomi MD , Tomoko Shimizu MD, PhD , Katsuki Nakasute MD
{"title":"Successful treatment of the dupilumab-induced psoriatic dermatitis/arthritis and atopic dermatitis with a JAK inhibitor: A case report and literature review","authors":"Misuzu Tsunoda MD ,&nbsp;Takeya Adachi MD, PhD ,&nbsp;Yuuri Nakajima MD ,&nbsp;Yoshihiro Yatomi MD ,&nbsp;Tomoko Shimizu MD, PhD ,&nbsp;Katsuki Nakasute MD","doi":"10.1016/j.jacig.2024.100323","DOIUrl":"10.1016/j.jacig.2024.100323","url":null,"abstract":"<div><p>Dupilumab-induced psoriatic dermatitis and arthritis in a patient with atopic dermatitis were effectively managed with upadacitinib, highlighting the use of Janus kinase inhibitors as a possible treatment for biologic therapy side effects.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100323"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S277282932400119X/pdfft?md5=e2cefb2bbc0ec8490f41e39229f8fe37&pid=1-s2.0-S277282932400119X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142076226","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
Rash decisions: Unmasking a risk phenotype in adults with persistent delayed penicillin allergy sensitized during historic infection with Epstein-Barr virus 皮疹决策:揭示历史上曾感染 Epstein-Barr 病毒并对其过敏的持续性迟发性青霉素过敏成人的风险表型
The journal of allergy and clinical immunology. Global Pub Date : 2024-08-05 DOI: 10.1016/j.jacig.2024.100320
Fionnuala Cox BA Hons, PhD, MB, BCh, BAO, MRCPI, FRCPath , Natasha E. Holmes MBBS, PhD , Jamie Lee Waldron MD , Jason A. Trubiano MBBS, PhD
{"title":"Rash decisions: Unmasking a risk phenotype in adults with persistent delayed penicillin allergy sensitized during historic infection with Epstein-Barr virus","authors":"Fionnuala Cox BA Hons, PhD, MB, BCh, BAO, MRCPI, FRCPath ,&nbsp;Natasha E. Holmes MBBS, PhD ,&nbsp;Jamie Lee Waldron MD ,&nbsp;Jason A. Trubiano MBBS, PhD","doi":"10.1016/j.jacig.2024.100320","DOIUrl":"10.1016/j.jacig.2024.100320","url":null,"abstract":"<div><h3>Background</h3><p>Penicillin-associated exanthems in the setting of infectious mononucleosis caused by Epstein-Barr virus (EBV) are often viewed as a transient event, not a true allergy. Recent evidence challenges this and suggests that a notable subset of patients retain penicillin hypersensitivity.</p></div><div><h3>Objective</h3><p>We investigated the occurrence and predictors of persistent adulthood hypersensitivity in those with penicillin-associated rash occurring in the setting of EBV infection.</p></div><div><h3>Methods</h3><p>Retrospective analysis of data of patients referred for penicillin allergy testing to an Australian tertiary-care hospital captured from 2015 to 2023 was carried out.</p></div><div><h3>Results</h3><p>Of 2066 patients, 23 (1%) had penicillin-associated rash during an historic EBV infection; 16 (70%) were female; and median (interquartile range) age was 18 (16-20) years at index reaction and 38 (33.5-57) years at allergy testing. Skin prick testing and delayed intradermal testing to a penicillin panel were performed, followed by oral provocation challenge in those testing negative. Persistent sensitization was shown in 6 (26%) of 23; 4 (67%) of 6 positive delayed intradermal testing; and 3 (50%) of 6 had positive oral challenge test. Notably, 5 (83%) of 6 had a severe maculopapular exanthem with facial swelling, including 2 (33%) of 6 with probable drug reaction with eosinophilia and systemic symptoms (aka DRESS) during the index reaction, compared to 0 of 17 in patients tolerating penicillin on reexposure.</p></div><div><h3>Conclusion</h3><p>This study highlights the requirement of allergy testing in adult patients reporting a penicillin-associated severe maculopapular exanthem in the setting of EBV, even if it occurred during childhood or adolescence.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100320"},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001164/pdfft?md5=40b3d8779ac9e956ced0d353715f2c56&pid=1-s2.0-S2772829324001164-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142077318","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
Aims and scope 目标和范围
The journal of allergy and clinical immunology. Global Pub Date : 2024-08-01 DOI: 10.1016/S2772-8293(24)00103-6
{"title":"Aims and scope","authors":"","doi":"10.1016/S2772-8293(24)00103-6","DOIUrl":"10.1016/S2772-8293(24)00103-6","url":null,"abstract":"","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 3","pages":"Article 100307"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001036/pdfft?md5=0edc9c9f610016e7b811300235cef55c&pid=1-s2.0-S2772829324001036-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952215","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
Biomarkers and patient-related factors associated with clinical outcomes in dupilumab-treated atopic dermatitis 与杜匹单抗治疗特应性皮炎临床疗效相关的生物标记物和患者相关因素
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-31 DOI: 10.1016/j.jacig.2024.100317
Makiko Kido-Nakahara MD , Daisuke Onozuka PhD , Kenji Izuhara PhD , Hidehisa Saeki MD , Satoshi Nunomura PhD , Motoi Takenaka MD , Mai Matsumoto MD , Yoko Kataoka MD , Rai Fujimoto MD , Sakae Kaneko MD , Eishin Morita MD , Akio Tanaka MD , Michihiro Hide MD , Tatsuro Okano MD , Tomomitsu Miyagaki MD , Natsuko Aoki MD , Kimiko Nakajima MD , Susumu Ichiyama MD , Kyoko Tonomura MD , Yukinobu Nakagawa MD , Takeshi Nakahara MD
{"title":"Biomarkers and patient-related factors associated with clinical outcomes in dupilumab-treated atopic dermatitis","authors":"Makiko Kido-Nakahara MD ,&nbsp;Daisuke Onozuka PhD ,&nbsp;Kenji Izuhara PhD ,&nbsp;Hidehisa Saeki MD ,&nbsp;Satoshi Nunomura PhD ,&nbsp;Motoi Takenaka MD ,&nbsp;Mai Matsumoto MD ,&nbsp;Yoko Kataoka MD ,&nbsp;Rai Fujimoto MD ,&nbsp;Sakae Kaneko MD ,&nbsp;Eishin Morita MD ,&nbsp;Akio Tanaka MD ,&nbsp;Michihiro Hide MD ,&nbsp;Tatsuro Okano MD ,&nbsp;Tomomitsu Miyagaki MD ,&nbsp;Natsuko Aoki MD ,&nbsp;Kimiko Nakajima MD ,&nbsp;Susumu Ichiyama MD ,&nbsp;Kyoko Tonomura MD ,&nbsp;Yukinobu Nakagawa MD ,&nbsp;Takeshi Nakahara MD","doi":"10.1016/j.jacig.2024.100317","DOIUrl":"10.1016/j.jacig.2024.100317","url":null,"abstract":"<div><h3>Background</h3><p>Atopic dermatitis (AD) is a common chronic eczematous skin disease with severe pruritus. Several new therapeutic agents for AD such as dupilumab, an anti–IL-4Rα antibody, have been developed in recent years. We need to predict which agent is the best choice for each patient, but this remains difficult.</p></div><div><h3>Objective</h3><p>Our aim was to examine clinical background factors and baseline biomarkers that could predict the achievement of improved clinical outcomes in patients with AD treated with dupilumab.</p></div><div><h3>Methods</h3><p>A multicenter, prospective observational study was conducted on 110 patients with AD. The Eczema Area and Severity Index was used as an objective assessment, and the Patient-Oriented Eczema Measure and Numerical Rating Scale for Pruritus were used as patient-reported outcomes. In addition, some clinical background factors were evaluated.</p></div><div><h3>Results</h3><p>The achievement of an absolute Eczema Area and Severity Index of 7 or less was negatively associated with current comorbidity of food allergy and baseline serum lactate dehydrogenase (LDH) levels. There were negative associations between achievement of a Patient-Oriented Eczema Measure score of 7 or less and duration of severe AD and between achievement of an itching Numerical Rating Scale for Pruritus score of 1 or less and current comorbidity of allergic conjunctivitis or baseline serum periostin level. Furthermore, signal detection analysis showed that a baseline serum LDH level less than 328 U/L could potentially be used as a cutoff value for predicting the efficacy of dupilumab.</p></div><div><h3>Conclusion</h3><p>Baseline biomarkers such as LDH and periostin and clinical background factors such as current comorbidity of food allergy and a long period of severe disease may be useful indicators when choosing dupilumab for systemic treatment for AD, as they can predict the efficacy of dupilumab.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100317"},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001139/pdfft?md5=190f00d4c0faaaf03ce454fb53c7bf05&pid=1-s2.0-S2772829324001139-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142006716","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
MASTering systemic mastocytosis: Lessons learned from a large patient cohort MASTering 系统性肥大细胞增多症:从大量患者中汲取的经验教训
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-27 DOI: 10.1016/j.jacig.2024.100316
Kevin Y. Tse MD, MS , Wansu Chen MS, PhD , Eric J. Puttock PhD , Shanta Chowdhury MS, PhD , Kerri Miller PharmD , Dakota Powell MPH , Benjamin Lampson MD, PhD , Chris Yuen PharmD , Doug Cattie PhD , Teresa Green MSPH , Erin Sullivan PhD, MPH , Robert S. Zeiger MD, PhD
{"title":"MASTering systemic mastocytosis: Lessons learned from a large patient cohort","authors":"Kevin Y. Tse MD, MS ,&nbsp;Wansu Chen MS, PhD ,&nbsp;Eric J. Puttock PhD ,&nbsp;Shanta Chowdhury MS, PhD ,&nbsp;Kerri Miller PharmD ,&nbsp;Dakota Powell MPH ,&nbsp;Benjamin Lampson MD, PhD ,&nbsp;Chris Yuen PharmD ,&nbsp;Doug Cattie PhD ,&nbsp;Teresa Green MSPH ,&nbsp;Erin Sullivan PhD, MPH ,&nbsp;Robert S. Zeiger MD, PhD","doi":"10.1016/j.jacig.2024.100316","DOIUrl":"10.1016/j.jacig.2024.100316","url":null,"abstract":"<div><h3>Background</h3><p>Systemic mastocytosis (SM), a rare condition affecting about 32,000 individuals in the United States, is often misdiagnosed or underdiagnosed owing to its nonspecific symptoms and the need for invasive biopsies.</p></div><div><h3>Objective</h3><p>Our aim was to identify, classify, and characterize the natural history of patients with SM.</p></div><div><h3>Methods</h3><p>In a retrospective cohort study, administrative data from a large managed care organization was used to identify patients with confirmed SM, based on World Health Organization criteria. Demographic data, delay to diagnosis, disease progression, and health care resource utilization were examined.</p></div><div><h3>Results</h3><p>Of 116 patients with confirmed SM, 77% had indolent SM, 2% had smoldering SM, 12% had SM with associated hematologic neoplasm, 9% had aggressive SM, and none had mast cell leukemia. In all, 5 patients were misclassified as having a less advanced SM subtype initially and 3 were completely undiagnosed (missed diagnosis). The average delay to diagnosis of SM was 58.3 plus or minus 73.1 months. In all, 18% of patients progressed from a nonadvanced form of SM (indolent or smoldering SM) to an advanced form of SM (aggressive SM, SM with associated hematologic neoplasm, or mast cell leukemia) over an average of 88.3 plus or minus 82.7 months. Patients with SM had increased health care utilization, including increases in their numbers of hospital admissions, emergency room visits, urgent care visits, and specialty provider visits, after diagnosis versus before.</p></div><div><h3>Conclusions</h3><p>Rare diseases such as SM would benefit from increased understanding and awareness to improve diagnostic accuracy. Prospective studies are needed to better characterize this patient population and determine the type of follow-up needed to recognize advanced forms of SM so that appropriate treatment can be implemented.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100316"},"PeriodicalIF":0.0,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001127/pdfft?md5=0868b237a6118df8f57235816e80a64e&pid=1-s2.0-S2772829324001127-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141841274","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
Enrollment of underserved racial and ethnic populations in pediatric asthma clinical trials 儿科哮喘临床试验中未得到充分服务的种族和民族人群的入组情况
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-26 DOI: 10.1016/j.jacig.2024.100315
Alexandra T. Geanacopoulos MD , Ann Chen Wu MD, MPH , Florence T. Bourgeois MD, MPH , Alon Peltz MD, MBA, MHS , Ryan Walsh BS , Amy Han MPH , Mei-Sing Ong PhD
{"title":"Enrollment of underserved racial and ethnic populations in pediatric asthma clinical trials","authors":"Alexandra T. Geanacopoulos MD ,&nbsp;Ann Chen Wu MD, MPH ,&nbsp;Florence T. Bourgeois MD, MPH ,&nbsp;Alon Peltz MD, MBA, MHS ,&nbsp;Ryan Walsh BS ,&nbsp;Amy Han MPH ,&nbsp;Mei-Sing Ong PhD","doi":"10.1016/j.jacig.2024.100315","DOIUrl":"10.1016/j.jacig.2024.100315","url":null,"abstract":"<div><h3>Background</h3><p>The existing data on enrollment trends of historically underserved racial and ethnic children in clinical trials are limited.</p></div><div><h3>Objective</h3><p>We sought to evaluate documentation and representation of race and ethnicity in pediatric asthma clinical trials in the United States.</p></div><div><h3>Methods</h3><p>This is a cross-sectional study of United States–based interventional trials studying pediatric asthma that were completed between 2008 and 2022 and registered on <span><span>ClinicalTrials.gov</span><svg><path></path></svg></span>. Enrollment disparities were assessed by using the measure enrollment prevalence difference (EPD) (defined as the median difference between the proportion of participants enrolled and asthma prevalence in the US population by race and ethnicity).</p></div><div><h3>Results</h3><p>Of the 67 trials reviewed, 53 (79.2%) and 36 (53.7%) reported on race and ethnicity at <span><span>ClinicalTrials.gov</span><svg><path></path></svg></span>, respectively. Most participants were White (39.1%), Black (37.1%), or non-Hispanic (66.1%). Black, Hispanic, multiracial, and White children were enrolled in the expected proportions based on their contribution to asthma burden. However, American Indian or Alaska Native (AI/AN) (EPD = –1 [95% CI = –1 to –1]) and Asian children (EPD = –3 [95% CI = –3 to –3]) were underrepresented relative to disease burden in these respective groups. Fewer Black children were enrolled in drug or device trials (β = –0.80 [95% CI = –1.60 to –0.01]) than in other trials. Fewer Hispanic children were enrolled in early-phase than late-phase trials (β = –2.42 [95% CI = –3.66 to –1.19]).</p></div><div><h3>Conclusions</h3><p>Enrollment in pediatric asthma trials conducted in the United States was commensurate with the demographics of children affected by asthma for most racial and ethnic groups, but American Indian or Alaska Native and Asian children were underrepresented. Concerted efforts are needed to promote inclusion of these underserved groups in future trials.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100315"},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001115/pdfft?md5=8dafefc1aad6bd0c14de454b4861a3ed&pid=1-s2.0-S2772829324001115-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850875","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
Granulomatous hyperinflammatory state induced by dupilumab treatment for eosinophilic esophagitis 治疗嗜酸性粒细胞食管炎的双鲁单抗诱发肉芽肿性高炎性状态。
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-26 DOI: 10.1016/j.jacig.2024.100314
Kanak V. Kennedy MD , Anna Costello MD , Melissa A. Lerman MD, PhD , Jon M. Burnham MD , Aoife Corcoran MD , Joseph Piccione DO , Alexandra Grier MD, PhD , Kathleen Sullivan MD, PhD , Terri Whitehorn-Brown MD , Caitlin J. Alexander MD , Laura S. Finn MD , Benjamin J. Wilkins MD, PhD , Amanda B. Muir MD
{"title":"Granulomatous hyperinflammatory state induced by dupilumab treatment for eosinophilic esophagitis","authors":"Kanak V. Kennedy MD ,&nbsp;Anna Costello MD ,&nbsp;Melissa A. Lerman MD, PhD ,&nbsp;Jon M. Burnham MD ,&nbsp;Aoife Corcoran MD ,&nbsp;Joseph Piccione DO ,&nbsp;Alexandra Grier MD, PhD ,&nbsp;Kathleen Sullivan MD, PhD ,&nbsp;Terri Whitehorn-Brown MD ,&nbsp;Caitlin J. Alexander MD ,&nbsp;Laura S. Finn MD ,&nbsp;Benjamin J. Wilkins MD, PhD ,&nbsp;Amanda B. Muir MD","doi":"10.1016/j.jacig.2024.100314","DOIUrl":"10.1016/j.jacig.2024.100314","url":null,"abstract":"<div><p>We present the first case of a dupilumab-induced hyperinflammatory state in the setting of underlying eosinophilic esophagitis characterized by multisystem granulomatous inflammation. Although clinical trial data and subsequent real-world experience support dupilumab as a highly effective therapy for eosinophilic esophagitis, close monitoring for development of adverse symptoms following initiation remains paramount.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100314"},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001103/pdfft?md5=511687d188c2e37b4f58375efad84610&pid=1-s2.0-S2772829324001103-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844620","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
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure 新型种系STAT3功能增益突变会导致自身免疫性疾病和严重的生长发育障碍
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-26 DOI: 10.1016/j.jacig.2024.100312
Koji Saito MD , Minoru Fujimoto MD, PhD , Eiji Funajima MSc , Satoshi Serada PhD , Tomoharu Ohkawara MD , Masayuki Ishihara MD, PhD , Mamiko Yamada MD, PhD , Hisato Suzuki MD, PhD , Fuyuki Miya PhD , Kenjiro Kosaki MD, PhD , Mikiya Fujieda MD, PhD , Tetsuji Naka MD, PhD
{"title":"Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure","authors":"Koji Saito MD ,&nbsp;Minoru Fujimoto MD, PhD ,&nbsp;Eiji Funajima MSc ,&nbsp;Satoshi Serada PhD ,&nbsp;Tomoharu Ohkawara MD ,&nbsp;Masayuki Ishihara MD, PhD ,&nbsp;Mamiko Yamada MD, PhD ,&nbsp;Hisato Suzuki MD, PhD ,&nbsp;Fuyuki Miya PhD ,&nbsp;Kenjiro Kosaki MD, PhD ,&nbsp;Mikiya Fujieda MD, PhD ,&nbsp;Tetsuji Naka MD, PhD","doi":"10.1016/j.jacig.2024.100312","DOIUrl":"10.1016/j.jacig.2024.100312","url":null,"abstract":"<div><h3>Background</h3><p>In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 (<em>STAT3</em>) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generation sequencing, and targeted therapies such as tocilizumab have been reported to be effective.</p></div><div><h3>Objective</h3><p>We sought to assess whether a novel <em>STAT3</em> mutation detected by whole-exome sequencing is pathogenic and examine the efficacy of targeted therapy.</p></div><div><h3>Methods</h3><p>A pediatric patient with idiopathic pulmonary hemosiderosis, autoimmune thyroiditis, inflammatory bowel disease unclassified, leukocytosis, thrombocytosis, and severe growth failure was examined.</p></div><div><h3>Results</h3><p>This 7-year-old boy had idiopathic pulmonary hemosiderosis at the age of 6 months. Despite high-dose steroid therapy, pulmonary fibrosis progressed. Furthermore, he presented with severe growth failure, autoimmune thyroiditis, leukocytosis, thrombocytosis, and inflammation bowel disease unclassified. Given the presence of multiple autoimmune diseases, whole-exome sequencing was performed, which detected germline <em>de novo</em> heterozygous <em>STAT3</em> mutation (NM_139276.2; c.2144C&gt;A, p.(P715Q)). Dual-luciferase reporter assay revealed this novel STAT3 mutation as GOF. After starting tocilizumab therapy at the age of 6, hospital stays decreased, and the progression of pulmonary fibrosis was decelerated without increasing the steroid dose. New autoimmune diseases did not develop, and no apparent adverse effects on growth have been observed.</p></div><div><h3>Conclusions</h3><p>Tocilizumab may be effective for patients with STAT3 GOF mutation, including those requiring long-term management of idiopathic pulmonary hemosiderosis. Diagnosis of patients with early-onset multiorgan autoimmune diseases in which STAT3 GOF is suspected should be confirmed by genetic testing and functional analysis to consider the introduction of targeted therapies.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100312"},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001085/pdfft?md5=1ee7936e8e2e37bb4ad512f4a115b59b&pid=1-s2.0-S2772829324001085-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141845540","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
Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency 对聋哑青少年男性复发性和顽固性尖锐湿疣的评估发现 GATA2 缺乏症
The journal of allergy and clinical immunology. Global Pub Date : 2024-07-26 DOI: 10.1016/j.jacig.2024.100313
Dieu T. Doan MD , Paige V. Strebeck MD , Andrew D. Tran MD , Jason E. Farrar MD , Lauren E. Appell MD , Arunkumar J. Modi MBBS, MPH , Akilah A. Jefferson MD, MSc
{"title":"Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency","authors":"Dieu T. Doan MD ,&nbsp;Paige V. Strebeck MD ,&nbsp;Andrew D. Tran MD ,&nbsp;Jason E. Farrar MD ,&nbsp;Lauren E. Appell MD ,&nbsp;Arunkumar J. Modi MBBS, MPH ,&nbsp;Akilah A. Jefferson MD, MSc","doi":"10.1016/j.jacig.2024.100313","DOIUrl":"10.1016/j.jacig.2024.100313","url":null,"abstract":"<div><p>Prompt evaluation and genetic testing of patients who present with recurrent and recalcitrant warts, before onset of severe infection or myelodysplastic syndrome, leads to improved outcomes in patients with GATA2 deficiency.</p></div>","PeriodicalId":75041,"journal":{"name":"The journal of allergy and clinical immunology. Global","volume":"3 4","pages":"Article 100313"},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772829324001097/pdfft?md5=54518bc7b1ba83116baf3d29c2bd8dd2&pid=1-s2.0-S2772829324001097-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850209","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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