Pediatric Allergy Immunology and Pulmonology最新文献

{"title":"A Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome.","authors":"Sezin Aydemir, Gözde Yeşil, Ayça Dilruba Aslanger, Süheyla Ocak, Funda Cipe, Salih Güler, Özgür Kaşapçopur, Esra Yücel, Ayça Kıykım","doi":"10.1177/2151321X261466350","DOIUrl":"10.1177/2151321X261466350","url":null,"abstract":"<p><p><i>Introduction:</i>GATA binding protein 2 (GATA2) deficiency is an autosomal dominant disorder characterized by immunodeficiency, progressive cytopenias, and an increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Novel variants continue to broaden the clinical and genetic spectrum of this condition.<i>Case Presentation:</i>An 11-year-old girl presented with recalcitrant cutaneous warts, recurrent infections, and multilineage cytopenias. Her father had longstanding leukopenia and MDS that progressed to AML. Laboratory evaluation revealed monocytopenia, B- and Natural killer-cell lymphopenia, and dysplastic bone marrow findings. Genetic analysis identified a previously unreported heterozygous splice-site variant in GATA2 (c.1017 + 1 G > A), confirmed in stored DNA from her deceased father. Despite supportive care and allogeneic hematopoietic stem cell transplantation from a matched unrelated donor, she developed severe graft-versus-host disease and died from transplant-related complications.<i>Conclusion:</i>This report identifies a previously unreported GATA2 splice-site variant with clinical and familial evidence supporting pathogenicity, contributing to the expanding mutational spectrum and enhancing understanding of genotype-phenotype correlations in GATA2 deficiency.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261466350"},"PeriodicalIF":1.3,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364040","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}

{"title":"<i>Corrigendum to:</i> A Rare Clinical Course in Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome: Lung Involvement.","authors":"","doi":"10.1177/2151321X251407828","DOIUrl":"10.1177/2151321X251407828","url":null,"abstract":"","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"53"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145835281","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}

{"title":"Effectiveness of Caregiver Interventions to Reduce Household Secondhand Smoke Exposure on Pediatric Asthma Outcomes: A Systematic Review.","authors":"Celine R Esguerra, Michael S Lutzker, Maya R Castiblanco, Safa Elkefi, Alicia K Matthews, Jean-Marie Bruzzese","doi":"10.1177/2151321X261461542","DOIUrl":"10.1177/2151321X261461542","url":null,"abstract":"<p><p>Asthma is a common chronic condition in childhood. Household secondhand smoke exposure (SHSe) from caregiver smoking is a major, modifiable contributor to poor asthma control. Previous reviews of SHSe interventions have focused broadly on indoor environmental or health outcomes for the general population. The impact of such interventions on pediatric asthma has yet to be systematically reviewed. We aimed to synthesize evidence regarding the effectiveness of caregiver secondhand smoke interventions for improving pediatric asthma outcomes and identify gaps to guide future intervention research. Following Joanna Briggs Institute methods and Preferred Reporting Items for Systematic Reviews and Meta-Analyses standards, we systematically searched PubMed, PsycINFO, CINAHL, Web of Science, and EMBASE. Eligible studies had no publication date restrictions, tested an intervention targeting household SHSe, and reported pediatric asthma-related outcomes. Randomized and quasi-experimental designs were included. Reviewers independently screened records, extracted data, and assessed risk of bias using the Cochrane Risk of Bias tools for randomized and nonrandomized trials. Of 9,832 records screened, 14 studies spanning 13 distinct interventions met the inclusion criteria. Except for 1 study with a single-group pretest-posttest design, all studies were randomized controlled trials. Overall risk of bias was low to moderate, with only 1 study deemed to be at critical risk. Interventions were typically home-based, delivered by health professionals, and incorporated asthma or SHSe education. Nine included a behavioral counseling component, and 6 incorporated caregiver feedback on SHSe. Six interventions improved subjective asthma indicators, such as symptom control, functional status, and unscheduled health care utilization; objective lung function improvements were not found. Behaviorally focused interventions that integrated caregiver feedback with education had the greatest success in reducing short-term SHSe and improving pediatric asthma outcomes. Evidence for long-term benefits remains poor. Lack of homogeneity in intervention content, measurement, and follow-up periods limits comparability. Future longitudinal trials with standardized measurement tools and diverse racial, ethnic, and socioeconomic populations are warranted.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"14-29"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13450070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148273630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Time to Cessation of Inhaled Corticosteroid Therapy in Transient Wheezers.","authors":"Natwara Thanatcharoenkul, Wanaporn Anuntaseree, Kantisa Sirianansopa, Kanokpan Ruangnapa, Kantara Saelim, Pharsai Prasertsan","doi":"10.1177/2151321X261463343","DOIUrl":"10.1177/2151321X261463343","url":null,"abstract":"<p><p><i>Background:</i>Transient wheezers are preschool children with recurrent wheezing that resolves by age 6 years. In cases of frequent or severe exacerbations, maintenance inhaled corticosteroid (ICS) therapy is often required. This study evaluated the time to ICS cessation and identified factors associated with delayed cessation.<i>Materials and Methods:</i>This retrospective study included children under 5 years with >3 wheezing episodes per year who received ICS therapy. The duration of ICS treatment was calculated from the initiation to the cessation of ICS use. Successful ICS cessation was defined as the absence of wheezing following discontinuation of ICS, with follow-up until at least 7 years of age. The primary outcome was time to ICS cessation, estimated using a time to event curve. Factors associated with time to ICS cessation were identified using a Weibull accelerated failure time model.<i>Results:</i>A total of 162 children were enrolled. The mean ages (SD) at ICS initiation and cessation were 2.7 (1.1) and 4.1 (1.1) years, respectively. The median time to achieve ICS cessation was 16.1 months. Compared with children aged >3 years, those aged <2 years had more than twice the time to ICS cessation (time ratio [TR] 2.01, 95% confidence interval [CI] 1.62-2.49). In addition, the presence of non-allergic rhinitis (NAR) was associated with a TR of 1.38 (95% CI: 1.09-1.76), suggesting that these children required 38% longer to discontinue ICS therapy than those without rhinitis.<i>Conclusion:</i>Among transient wheezers requiring ICS therapy, the median time to successful cessation was 16.1 months and may represent a potential upper-bound estimate. The observed time to ICS cessation likely reflects physician-driven decision-making. Younger age and NAR were associated with delayed ICS discontinuation. These findings provide real-world evidence on ICS treatment trajectories in children whose wheezing ultimately resolves and support the development of evidence-based guidelines to optimize ICS discontinuation.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"36-43"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304080","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}

{"title":"Successful Rapid Desensitization with Nitrofurantoin in a Patient with Multiple Drug Allergy Syndrome.","authors":"Yagmur Ozkan, Ahmet Sert, Erkan Cakmak, Caner Uztemur, Ebru Bascı, Pinar Gokmirza, Cigdem Aydogmus","doi":"10.1177/2151321X261459959","DOIUrl":"10.1177/2151321X261459959","url":null,"abstract":"<p><p><i>Background:</i>Drug-induced anaphylaxis is increasingly reported in children, and multiple drug allergy syndrome (MDAS) poses therapeutic challenges. Desensitization may be considered when no alternative therapy exists. Nitrofurantoin is widely used for uncomplicated urinary tract infections (UTIs); however, anaphylaxis related to it has been rarely described, and no cases of desensitization have been reported.<i>Case Presentation:</i>We present the case of an 8-year-old girl with recurrent UTIs and MDAS who had experienced anaphylaxis to amoxicillin and nitrofurantoin, as well as urticaria associated with aminoglycosides and cephalosporins. After isolation of <i>Escherichia coli</i> resistant to multiple antibiotics but sensitive to nitrofurantoin, a rapid 12-step oral desensitization protocol was implemented under close monitoring. The procedure was well tolerated without systemic reactions, and nitrofurantoin prophylaxis was successfully initiated.<i>Conclusions:</i>To the best of our knowledge, this is the first reported case of successful nitrofurantoin desensitization in a child with MDAS, providing a potential therapeutic option for similarly high-risk scenarios.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"48-51"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148213368","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}

{"title":"Early-Life Viral Lower Respiratory Tract Infections and Their Impact on Childhood Asthma: Molecular Endotypes and Prevention Strategies.","authors":"Sara Allaham, Shamsulmustafa Mohamed, Manal Yusuf, Abdifatah Abdillahi","doi":"10.1177/2151321X261445781","DOIUrl":"10.1177/2151321X261445781","url":null,"abstract":"<p><p><i>Background:</i> Early-life viral lower respiratory tract infections (LRTIs), particularly those caused by respiratory syncytial virus (RSV) and human rhinovirus (HRV), are major contributors to pediatric morbidity and are strongly linked to asthma. RSV causes about 3.6 million hospitalizations and 100,000 deaths annually in children under 5, mainly in low- and middle-income countries. RSV peaks in infancy, while HRV has more impact later in childhood. Mechanisms include viral epithelial injury, genetic susceptibility (e.g., 17q21 variants), and environmental factors (e.g., allergic sensitization). Together, these raise asthma risk. Diagnosis is difficult due to overlapping presentations and reliance on molecular tests. Preventive strategies include maternal RSV vaccination, long-acting monoclonal antibodies such as nirsevimab and palivizumab, and pediatric vaccine candidates. Strategies to limit allergic sensitization may lower HRV-related asthma risk. Long-term effects include persistent wheeze and asthma, making early life a crucial window for prevention.<i>Methods:</i> This review summarizes current evidence on the epidemiology, mechanisms, and long-term impact of early viral LRTIs.<i>Results:</i> It highlights molecular and immunological endotypes of virus-induced asthma and explores the influence of genetic, epigenetic, and microbial factors. Emerging diagnostic tools and preventive strategies-including vaccines, monoclonal antibodies, environmental interventions, and microbiome-targeted therapies-are also discussed as means to reduce the global pediatric asthma burden and improve respiratory health.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"5-13"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147789363","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}

{"title":"From Idiopathic to Identifiable: Oral Mite Sensitization Revealed by Component-Resolved Diagnostics.","authors":"Serkan Arslan, Meryem Özçelik, Ahmet Sert, Simge Erdil, Çiğdem Aydoğmuş, Pınar Gökmirza","doi":"10.1177/2151321X261448302","DOIUrl":"10.1177/2151321X261448302","url":null,"abstract":"<p><p><i>Introduction:</i>Oral mite anaphylaxis (OMA) is an uncommon form of food-induced anaphylaxis caused by ingestion of foods contaminated with house dust mites. Exercise may act as a cofactor, sometimes mimicking food-dependent exercise-induced anaphylaxis (FDEIA).<i>Case Presentation:</i>We describe a 14-year-old boy with atopic dermatitis, allergic rhinitis, and mild asthma who experienced three episodes of anaphylaxis. Each reaction occurred 30-60 min after eating wheat-based foods, followed by physical activities such as football or basketball. Symptoms started with urticaria and progressed to cough and abdominal pain. Notably, he tolerated the same foods in the absence of exercise. Skin prick testing and specific IgE showed strong sensitization to <i>Dermatophagoides pteronyssinus</i> and <i>Dermatophagoides farinae</i>, but not to wheat. Multiplex component testing confirmed broad mite sensitization. Evaluation for primary immunodeficiency was unremarkable. The patient was prescribed an epinephrine auto-injector, and asthma therapy was optimized with budesonide/formoterol. Over 6 months of follow-up, no further episodes occurred, asthma control improved (Asthma Control Test score 24-25), and rhinitis symptoms subsided with intranasal antihistamines.<i>Discussion:</i>The clinical picture, together with negative wheat-specific IgE and strong mite sensitization, supported OMA rather than classical food allergy or FDEIA. Component-resolved diagnostics were especially helpful in confirming the diagnosis.<i>Conclusion:</i>This case underlines the importance of considering OMA in children with exercise-related anaphylaxis after wheat-based meals, particularly in patients who may initially appear to have idiopathic anaphylaxis. Careful history, use of CRD, and close follow-up are essential. Education, asthma control, and preventive measures remain key to reducing recurrence risk.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"44-47"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846115","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}

{"title":"Clinical, Immunological Findings, and Outcomes of Children with Ataxia-Telangiectasia: A Single Center Experience.","authors":"Serenay Cetinoglu, Selime Ozen, Idil Akay Haci, Ilke Taskirdi, Omer Akcal, Mehmet Sirin Kaya, Nesrin Gulez, Ferah Genel","doi":"10.1177/2151321X261463062","DOIUrl":"10.1177/2151321X261463062","url":null,"abstract":"<p><p><i>Introduction:</i>Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiency, sensitivity to ionizing radiation, and a tendency to malignancy. The aim of this study was to evaluate the demographic characteristics, immunodeficiency status, laboratory findings, and prognosis of children with AT based on a single-center experience.<i>Patients and Methods:</i>Nineteen pediatric patients diagnosed with AT between 2003 and 2024 were retrospectively analyzed at a single tertiary center.<i>Results:</i>The study included 11 male and 8 female patients, with a mean follow-up duration of 72.6 ± 41.3 months. The mean ages at symptom onset and diagnosis were 30.47 ± 23.7 months and 82.32 ± 26.5 months, respectively. The most common presenting symptoms were gait instability, ocular telangiectasia, and recurrent respiratory tract infections. Immunological evaluation revealed IgA deficiency in 57.9% of the patients and IgG deficiency in 15.8%. A hyper-IgM AT phenotype was identified in two patients (10.5%). During follow-up, bronchiectasis and hepatosteatosis developed in 26.3% of the patients. One patient (5.2%) developed type 2 diabetes mellitus, and malignancy occurred in three patients (15.7%). Overall, 6 patients (31.5%) died during the follow-up period.<i>Conclusion:</i>Ataxia-telangiectasia is a rare multisystem disorder associated with significant morbidity and mortality. Early diagnosis, comprehensive multidisciplinary follow-up, regular malignancy surveillance, and preventive strategies for recurrent sinopulmonary infections are essential for improving clinical outcomes and prognosis in affected patients.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"30-35"},"PeriodicalIF":1.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148273618","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}

{"title":"Intravenous Lipid Emulsion-Induced Soy Allergy and Atopic Dermatitis in an Infant: A Case Report.","authors":"Ece Şenbaykal Yiğit, İlke Taşkırdı, Serenay Alaca, Sinem Kahveci Çelik, Yeliz Çağan Appak, Tuba Tuncel","doi":"10.1177/2151321X251393086","DOIUrl":"10.1177/2151321X251393086","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Intravenous lipid emulsions (ILE) containing soy protein may cause reactions in allergic patients. We present a case report of atopic dermatitis (AD) and soy allergy triggered by intravenous lipid emulsion containing soy in an infant with short bowel syndrome (SBS). <b><i>Case Report:</i></b> A 9-month-old female infant with SBS who had been fed total parenteral nutrition (PN) since birth was consulted for severe AD. Laboratory tests revealed eosinophilia, elevated total IgE, and soy-specific IgE was found positive at 3.56 KU/L. Lipid emulsion containing 20% soybean-oil in PN was replaced with soy-free. The patient's AD lesions resolved rapidly. The food provocation test with re-administration of a soy-containing lipid emulsion confirmed the diagnosis of soy allergy by causing recurrence of eczematous lesions. <b><i>Conclusions:</i></b> This case demonstrates that ILE can cause soy sensitization and trigger AD without oral exposure. Food allergies should also not be forgotten in patients who receive only PN.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"153-155"},"PeriodicalIF":0.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145439878","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}

{"title":"TauroSept-Induced Anaphylaxis: A Pediatric Case Report.","authors":"Elise Mank, Nancy Broos, Ingrid Terreehorst, Olivia Liem, Charlotte M Nusman, Anne-Loes E Gerards, Joep P M Derikx, Merit M Tabbers","doi":"10.1177/2151321X251379008","DOIUrl":"10.1177/2151321X251379008","url":null,"abstract":"<p><p><b><i>Background:</i></b> Children with intestinal failure who are receiving parenteral nutrition through a central venous catheter are at risk of developing catheter-related bloodstream infections. For many years, a prophylactic lock with taurolidine has been used to decrease the incidence of these infections and is considered safe in children. <b><i>Case Presentation:</i></b> A 1-month-old boy with jejunal atresia was receiving parenteral nutrition through a central venous catheter. Shortly after administration of taurolidine (TauroSept®), he developed circulatory insufficiency and angioedema. His serum tryptase increased, which was suggestive of anaphylaxis (baseline tryptase 6.3 µg/L; 2 h after start of the reaction: 21 µg/L; cutoff criterion for clinically relevant increase: 1.2 × baseline tryptase level + 2). <b><i>Conclusions:</i></b> To the best of our knowledge, this is the first case of anaphylaxis in response to TauroSept® in an infant worldwide. Clinicians should be aware of this possible but very rare side effect.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"141-143"},"PeriodicalIF":0.8,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034709","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}