Pediatric Allergy Immunology and Pulmonology最新文献

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Changes in Breathing Reserves During Growth in Healthy Untrained Boys and Girls. 未经训练的健康男孩和女孩在成长过程中呼吸储备的变化。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-05-08 DOI: 10.1089/ped.2024.0087
Xu Yatao, Fenfen Zhou, Philippe Kilian, Rui Hu, Prioux Jacques
{"title":"Changes in Breathing Reserves During Growth in Healthy Untrained Boys and Girls.","authors":"Xu Yatao, Fenfen Zhou, Philippe Kilian, Rui Hu, Prioux Jacques","doi":"10.1089/ped.2024.0087","DOIUrl":"https://doi.org/10.1089/ped.2024.0087","url":null,"abstract":"<p><p><b><i>Background:</i></b> The assessment of breathing reserve (BR) is essential to determine if ventilatory function is limited during exercise. Few studies reported the values of BR in healthy children and adolescents of both sexes. This study aimed to analyze the effects of age and sex on changes in BR in healthy untrained children and adolescents during growth. <b><i>Methods:</i></b> A study was conducted in 186 healthy untrained children and adolescents (10-16 years old). Maximal ventilation (<math><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math><sub>Emax</sub>) and maximal oxygen uptake (<math><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math>O<sub>2max</sub>) were measured during a maximal graded test. Forced vital capacity and forced expiratory volume in 1 s (FEV<sub>1</sub>) were also measured. BR was expressed as a percentage of theoretical maximal voluntary ventilation (MVV) which was obtained by multiplying FEV<sub>1</sub> by 35. The data were assessed by one-way analysis of variance (ANOVA) and two-way ANOVA supplement a Newman-Keuls test when <i>P</i> was significant (<i>P</i> < 0.05). <b><i>Results:</i></b> Height, weight, and lean body mass increased between 11 and 16 years old. For boys,<math><mi> </mi><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math>O<sub>2max</sub>, <math><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math><sub>Emax</sub>, FEV<sub>1</sub>, and MVV increased (<i>P</i> < 0.05) between 12 and 16 years. For girls, <math><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math>O<sub>2max</sub> increased (<i>P</i> < 0.05) only between 11 and 12 and 14 and 15 years. Increases in <math><mrow><mover><mrow><mi>V</mi></mrow><mo>˙</mo></mover></mrow></math><sub>Emax</sub>, FEV<sub>1</sub>, and MVV were observed between 10 and 12 years and stabilized afterward. The BR in girls was higher than in boys (<i>P</i> < 0.05). There were no significant differences in BR at the same age correlated with sex during growth. <b><i>Discussion:</i></b> No significant changes were observed in BR as a function of age. BR changes during growth seem to be independent of changes in anthropometric characteristics.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Expert Commentary: It Is All in How You Read It! 专家评论:关键在于你怎么读!
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-05-08 DOI: 10.1089/ped.2025.0032
Russell Hopp
{"title":"Expert Commentary: It Is All in How You Read It!","authors":"Russell Hopp","doi":"10.1089/ped.2025.0032","DOIUrl":"https://doi.org/10.1089/ped.2025.0032","url":null,"abstract":"","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Atopic March in a Case of Filaggrin Gene Mutation. 聚丝蛋白基因突变1例特应性行军。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-04-08 DOI: 10.1089/ped.2024.0118
Anahita Razaghian, Leila Moradi, Bahar Allahverdi, Maryam Khansari Asadabadi, Zahra Alizadeh, Raheleh Shokouhi Shoormasti, Mohammadreza Fazlollahi
{"title":"Atopic March in a Case of Filaggrin Gene Mutation.","authors":"Anahita Razaghian, Leila Moradi, Bahar Allahverdi, Maryam Khansari Asadabadi, Zahra Alizadeh, Raheleh Shokouhi Shoormasti, Mohammadreza Fazlollahi","doi":"10.1089/ped.2024.0118","DOIUrl":"https://doi.org/10.1089/ped.2024.0118","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> The atopic march refers to the progression of allergic disorders from atopic dermatitis (AD) in early childhood to food allergies, eosinophilic esophagitis (EOE), and later respiratory allergies such as asthma and allergic rhinitis. Mutations in the filaggrin gene, which compromise skin barrier function, are strongly associated with this progression and contribute to allergic sensitization. <b><i>Case Presentation:</i></b> We introduce a 7-year-old boy with severe AD, food anaphylaxis, EOE, allergic rhinitis, and asthma associated with a filaggrin mutation (c.5152C>T). His clinical course illustrates the atopic march, with initial skin involvement progressing to gastrointestinal and respiratory allergic manifestations. <b><i>Conclusion:</i></b> Understanding the genetic factors that drive this progression may help identify targets for early intervention to prevent the further development of allergic disease.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Profile of CD71+ Erythroid Cells in Korean Children: A Pilot Study. CD71+红细胞在韩国儿童中的分布:一项初步研究。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-04-07 DOI: 10.1089/ped.2024.0145
Hanwool Cho, Jin-Hee Oh, Yeongsic Kim, Dae Chul Jeong
{"title":"The Profile of CD71+ Erythroid Cells in Korean Children: A Pilot Study.","authors":"Hanwool Cho, Jin-Hee Oh, Yeongsic Kim, Dae Chul Jeong","doi":"10.1089/ped.2024.0145","DOIUrl":"https://doi.org/10.1089/ped.2024.0145","url":null,"abstract":"<p><p><b><i>Background:</i></b> CD71+ erythroid cells (CECs) play a complex immunoregulatory role. <b><i>Methods:</i></b> Flow cytometry was used to assess CECs in 84 individuals, from preterm infants to adults, divided into 5 age groups, 12 from infants under 6 months, 16 from young children (6 months-5 years), 24 from children (6-10 years), 22 from adolescents (11-19 years), and 10 from adults (≥20 years). <b><i>Results:</i></b> CECs are universally present at very low frequencies, except in individuals younger than 6 months (<i>P</i> < 0.001). Although preterm infants tended to have a higher median CECs than full-term infants, this difference was not statistically significant. Among individuals over 6 months, CECs showed significant negative correlations with hemoglobin (r = -0.448, <i>P</i> < 0.001) and hematocrit (r = -0.416, <i>P</i> < 0.001), but no such correlations were found in younger infants. <b><i>Conclusions:</i></b> CECs are present across all age groups, with higher levels in early infancy.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143796269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Impulse Oscillometry is Useful in Detecting Lung Function Abnormalities in Preschoolers with Primary Ciliary Dyskinesia but Not Cystic Fibrosis: A Cross-Sectional Study Results. 脉冲振荡测量可用于检测原发性纤毛运动障碍而非囊性纤维化的学龄前儿童肺功能异常:一项横断面研究结果。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-04-04 DOI: 10.1089/ped.2024.0142
Birce Sunman, Ebru Yalcin, Didem Alboga, Burcu Capraz Yavuz, Emine Altay Tanyer, Nagehan Emiralioglu, Deniz Dogru, Uğur Özçelik
{"title":"Impulse Oscillometry is Useful in Detecting Lung Function Abnormalities in Preschoolers with Primary Ciliary Dyskinesia but Not Cystic Fibrosis: A Cross-Sectional Study Results.","authors":"Birce Sunman, Ebru Yalcin, Didem Alboga, Burcu Capraz Yavuz, Emine Altay Tanyer, Nagehan Emiralioglu, Deniz Dogru, Uğur Özçelik","doi":"10.1089/ped.2024.0142","DOIUrl":"https://doi.org/10.1089/ped.2024.0142","url":null,"abstract":"<p><p><b><i>Background:</i></b> Although the forced oscillation technique has been used for many years in children, there is still inconclusive results about its efficiency in cystic fibrosis (CF). Moreover, no studies have been conducted on impulse oscillometry (IOS) in children with primary ciliary dyskinesia (PCD). <b><i>Methods:</i></b> Age, sex, weight, height, body mass index, and oscillometric parameters were compared in 3-6-year-old children with CF and PCD and healthy children. <b><i>Results:</i></b> This prospective study included 27 children with CF, 21 with PCD, and 27 healthy children, with mean ages of 4.11 ± 1.08, 4.33 ± 1.23, and 4.41 ± 0.79 years, respectively. No significant differences were revealed in the comparison of the z-scores of the parameters of the CF group with those of the healthy group. However, in the PCD group, z-scores of R5 and Z5 were significantly higher than those in the healthy group (<i>P</i> = 0.018 and <i>P</i> = 0.008, respectively). In addition, z-scores of X10, X15, and X20 were significantly lower in children with PCD compared with the healthy group (<i>P</i> = 0.013, <i>P</i> = 0.033, and <i>P</i> = 0.029, respectively). <b><i>Conclusions:</i></b> This first study simultaneously reporting IOS results in preschool children with CF or PCD showed a significant difference of resistance and reactance of airways between PCD and healthy children. This study is also very significant in showing that IOS can be performed in young children who are unable to cooperate with spirometry. In contrast, no such differences were noted between CF and healthy controls, possibly due to thick mucus affecting sound wave transmission through the airways in CF. In addition, IOS may be less effective in detecting early pulmonary disease, as in some studies it failed to identify abnormalities in young children with CF even when spirometry is abnormal.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Is a Life Without Water Possible? Aquagenic Urticaria: Report of a Case and Review of the Literature. 没有水的生命可能存在吗?水源性荨麻疹1例报告及文献复习。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-04-02 DOI: 10.1089/ped.2024.0135
Gizem Kabadayı, Damla Baysal Bakır, Halime Yağmur, Özge Atay, Nevin Uzuner
{"title":"Is a Life Without Water Possible? Aquagenic Urticaria: Report of a Case and Review of the Literature.","authors":"Gizem Kabadayı, Damla Baysal Bakır, Halime Yağmur, Özge Atay, Nevin Uzuner","doi":"10.1089/ped.2024.0135","DOIUrl":"https://doi.org/10.1089/ped.2024.0135","url":null,"abstract":"<p><p><b><i>Background:</i></b> Aquagenic urticaria (AU) is a rare form of physical urticaria, characterized by pruritic skin eruptions triggered by water exposure, irrespective of the water's temperature. Fewer than 100 cases have been documented. The wet towel provocation test is the diagnostic standard for AU. <b><i>Case Presentation:</i></b> A 12-year-old female patient presented with urticarial eruptions induced by water exposure and was diagnosed with AU following the wet towel provocation test. Initially, she tolerated brief water exposure; however, over time, eruptions occurred even with exposure to her sweat. Partial symptom control was achieved through preventive measures and antihistamine therapy. <b><i>Conclusions:</i></b> AU is a rare chronic condition that necessitates prompt diagnosis and tailored management strategies to improve the patient's quality of life.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Butter and Beef Tolerance in Children with IgE-Mediated Cow's Milk Allergy. ige介导的牛奶过敏儿童对黄油和牛肉的耐受性。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-03-19 DOI: 10.1089/ped.2024.0128
Stefano Miceli Sopo, Matteo Di Toro Mammarella, Mariannita Gelsomino, Francesco Mastellone, Marta Barbato, Bruno Miceli Sopo, Giulia Bersani
{"title":"Butter and Beef Tolerance in Children with IgE-Mediated Cow's Milk Allergy.","authors":"Stefano Miceli Sopo, Matteo Di Toro Mammarella, Mariannita Gelsomino, Francesco Mastellone, Marta Barbato, Bruno Miceli Sopo, Giulia Bersani","doi":"10.1089/ped.2024.0128","DOIUrl":"https://doi.org/10.1089/ped.2024.0128","url":null,"abstract":"<p><p><b><i>Background:</i></b> Butter and beef are often prejudicially forbidden for children affected by IgE-mediated cow's milk allergy (IgE-CMA). <b><i>Methods:</i></b> Children with IgE-CMA underwent prick-by-prick (PbP) test with clarified butter and normal butter, raw and cooked beef. In case of positivity of the PbP, an oral food challenge (OFC) with that food was proposed. <b><i>Results:</i></b> Thirty children with IgE-CMA were enrolled. Twenty-five (83%) introduced clarified butter into their diet; the remaining 5 did not want to do so. Fifteen patients (50%) were authorized to introduce normal butter into their diet; 1 patient (3%) was allergic to normal butter; for 14 patients (47%), allergy to normal butter remained uncertain. All 30 patients enrolled ate cooked beef without any problem. No one introduced raw or undercooked beef in his own diet for reasons of hygiene and taste. <b><i>Conclusions:</i></b> It is advisable to perform a PbP and eventually an OFC with normal butter, clarified butter, and cooked beef in any child affected by IgE-CMA.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Acknowledgment of Reviewers 2024. 审稿人致谢
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-03-01 DOI: 10.1089/ped.2024.45698.revack
{"title":"Acknowledgment of Reviewers 2024.","authors":"","doi":"10.1089/ped.2024.45698.revack","DOIUrl":"https://doi.org/10.1089/ped.2024.45698.revack","url":null,"abstract":"","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"38 1","pages":"40-41"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143631044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Evaluation and Effect of Transfusion on Respiratory Functions in Patients with β-Thalassemia Major. 输血对β-地中海贫血患者呼吸功能的影响及评价。
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-03-01 Epub Date: 2025-02-14 DOI: 10.1089/ped.2024.0123
Dilek Ece, Güzin Cinel, Emine Dibek Mısırlıoğlu, Emine Bahar Kurt, Turan Bayhan, Hüsniye Neşe Yaralı, Namık Yaşar Özbek
{"title":"Evaluation and Effect of Transfusion on Respiratory Functions in Patients with β-Thalassemia Major.","authors":"Dilek Ece, Güzin Cinel, Emine Dibek Mısırlıoğlu, Emine Bahar Kurt, Turan Bayhan, Hüsniye Neşe Yaralı, Namık Yaşar Özbek","doi":"10.1089/ped.2024.0123","DOIUrl":"10.1089/ped.2024.0123","url":null,"abstract":"<p><p><b><i>Background:</i></b> The lung is one of the organs that can be damaged in patients with thalassemia major (TM). In this study, we aimed to evaluate the pattern of lung impairment using various pulmonary tests and the effects of transfusion on pulmonary functions in patients with TM. <b><i>Materials and Methods:</i></b> The study was performed on patients 9-21 years of age prospectively. Spirometric tests, plethysmography, and CO diffusion tests were performed before and 2 h after erythrocyte transfusion. Patients also underwent a methacholine stimulation test 2 h after transfusion. <b><i>Results:</i></b> A total of 37 patients with TM were included in the study. There was no change in pretransfusion and post-transfusion spirometric test results. Plethysmographic tests revealed that both the median total lung capacity and the mean vital capacity values have decreased after transfusion. Medians of pretransfusion DLCO values significantly increased after transfusion. There was an impairment in diffusion in 16 (44.4%) patients, whereas it improved in 9 patients after transfusion. Bronchial hyperreactivity was detected in 10 out of 27 patients (37%) via methacholine stimulation test. There was obstructive airway disease in 20 patients (54%) out of 37 patients who had been tested. <b><i>Conclusions:</i></b> Patients with TM may have respiratory function abnormalities even while being asymptomatic. An obstructive airway pattern was the most common abnormality in our patient group. We revealed for the first time in the literature the presence and frequency of bronchial hypersensitivity in these patients using the methacholine stimulation test.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"21-28"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma. RASGRP1缺失与弥漫性系膜硬化、婴儿肾病综合征和eb病毒诱导的霍奇金淋巴瘤相关
IF 1.1 4区 医学
Pediatric Allergy Immunology and Pulmonology Pub Date : 2025-03-01 Epub Date: 2025-01-03 DOI: 10.1089/ped.2024.0062
Khairoon Nisa Mohamed Nashrudin, Mohd Azri Zainal Abidin, Shi Eng Ng, Hadibiah Razali, Vida Jawin, Atiqah Farah Zakaria, Razana Mohd Ali, Ida Shahnaz Othman, Mohamed Najib Mohamed Unni, Christina Yuh-Ron Hung, Intan Hakimah Ismail
{"title":"RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.","authors":"Khairoon Nisa Mohamed Nashrudin, Mohd Azri Zainal Abidin, Shi Eng Ng, Hadibiah Razali, Vida Jawin, Atiqah Farah Zakaria, Razana Mohd Ali, Ida Shahnaz Othman, Mohamed Najib Mohamed Unni, Christina Yuh-Ron Hung, Intan Hakimah Ismail","doi":"10.1089/ped.2024.0062","DOIUrl":"10.1089/ped.2024.0062","url":null,"abstract":"<p><p><i><b>Background:</b></i> RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. <i><b>Case Presentation:</b></i> Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years. Clinical assessment and investigations revealed a complex clinical picture, including recurrent cervical lymphadenopathy and recurrent infections. Further evaluation revealed immunological deficiencies, autoimmune lymphoproliferative syndrome-like illness, chronic EBV infection, and ultimately Hodgkin lymphoma. Genetic testing identified a RASGRP1 homozygous loss-of-function variant with both parents being carriers. <i><b>Conclusion:</b></i> This is the first reported case of RASGRP1 deficiency in Malaysia, and we highlight the challenges clinicians face when the disease manifests in varied presentations.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"11-20"},"PeriodicalIF":1.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142924091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
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