Pediatric Allergy Immunology and Pulmonology最新文献

{"title":"c.1681-7 G>A Variant in the Factor XII Gene in a Family Diagnosed with HAE-FXII Does Not Affect Splice Site.","authors":"Merve Demirbag Karaali, Simpel Pantir Retzep, Zuhal Karali, Yasin Karali, Elif Uz Yildirim, Sukru Cekic","doi":"10.1177/2151321X261487958","DOIUrl":"https://doi.org/10.1177/2151321X261487958","url":null,"abstract":"<p><p><i>Introduction:</i>Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic condition characterized by recurrent episodes of localized tissue swelling, often affecting the skin, upper respiratory tract, and gastrointestinal system. HAE-FXII, also known as HAE with normal C1 inhibitor (<i>C1INH</i>), has been associated with mutations in only one of several genes, including <i>FXII</i> encoding coagulation factor XII (FXII). The aim of the study was to investigate the pathogenicity and functional consequences of the c.1681-7G>A intronic variant in the <i>FXII</i> gene according to ACMG guidelines in familial cases of HAE-FXII.<i>Materials and Methods:</i>Genetic analysis was performed using Sanger sequencing on affected individuals. To assess whether the variant affects splicing, <i>in silico</i> analysis and Messenger RNA (mRNA) studies were conducted on patient-derived samples.<i>Results:</i>The c.1681-7G>A variant was identified in multiple individuals from affected families. However, splicing analysis revealed that this intronic variant did not cause any alteration in mRNA processing. No aberrant transcripts were detected, and expression levels were comparable to controls, indicating that the variant does not have an effect on splicing or gene function.<i>Discussion:</i>The c.1681-7G>A variant in the <i>FXII</i> gene is unlikely to be a pathogenic alteration in HAE type III.<i>Contribution to the Literature:</i>These findings support its classification as a benign variant, emphasizing the importance of functional validation when interpreting intronic changes in genetic diagnostics.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261487958"},"PeriodicalIF":1.3,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931880","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":"Treatment of Allergic Bronchopulmonary Aspergillosis with Dupilumab Reduces IgE Levels and is Well Tolerated in Three Children with Cystic Fibrosis.","authors":"Jeeyeon Kim, Henry W Barnes, Kayla Jung, Jesus Uribe, Maria Del Carmen Reyes, Mary Alice Gajo, Joy E Gibson, Jonathan Tam, Elizabeth B Burgener","doi":"10.1177/2151321X261487234","DOIUrl":"https://doi.org/10.1177/2151321X261487234","url":null,"abstract":"<p><p><i>Background:</i>Allergic bronchopulmonary aspergillosis (ABPA) is a common complication in cystic fibrosis (CF), leading to decreased lung function and frequent pulmonary exacerbations. Standard treatments, including glucocorticoids and antifungal medications, have limited long-term benefits and are often not well tolerated.<i>Methods:</i>This case series explores the use of dupilumab, a monoclonal antibody targeting the IL-4/IL-13 pathways, as treatment for ABPA in three pediatric patients with CF.<i>Results:</i>The results showed significant improvements in biomarkers such as total IgE and Aspergillus-specific antibodies as well as a reduction in the need for corticosteroids and antifungal agents. However, the clinical outcomes varied, with some patients experiencing limited improvement in lung function and continued challenges with pulmonary exacerbations and coexisting infections.<i>Conclusions:</i>The mechanism of dupilumab offers a novel therapeutic approach to managing ABPA inflammation. Further studies are needed to better understand the efficacy and safety in the treatment of ABPA in children with CF.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261487234"},"PeriodicalIF":1.3,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931891","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":"A Rare Pediatric Case of Valproic Acid-Induced Dress Syndrome with Concomitant Pulmonary and Hepatic Involvement.","authors":"Hilal Parıldar Tiryaki, Ahmet Sert, Meryem Özçelik, Meryem Betül Demir, Cansu Badem Kaya, Çiğdem Aydoğmuş, Pınar Gökmirza","doi":"10.1177/2151321X261486686","DOIUrl":"https://doi.org/10.1177/2151321X261486686","url":null,"abstract":"<p><p><i>Background:</i>Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe hypersensitivity reaction. While aromatic anticonvulsants are common triggers, valproic acid (VPA), a non-aromatic agent, is rarely implicated. Pulmonary involvement further complicates the prognosis.<i>Case Presentation:</i>A 9-year-old girl with cerebral palsy and epilepsy developed DRESS syndrome 4 weeks after VPA initiation. Clinical features included persistent fever, dyspnea, eosinophilia, and hepatitis. During follow-up, she developed a widespread maculopapular rash, respiratory distress, and pleural effusion requiring chest tube drainage. After excluding infectious and autoimmune etiologies, a diagnosis of \"probable DRESS syndrome according to the RegiSCAR criteria\" was made. Following VPA discontinuation and treatment with systemic corticosteroids and intravenous immunoglobulin, the patient recovered and was discharged after 24 days.<i>Conclusion:</i>VPA-induced DRESS syndrome with simultaneous hepatic and pulmonary involvement is exceptionally rare in children. Clinicians should be alert for DRESS syndrome in pediatric patients on antiepileptics presenting with fever, rash, and multi-organ dysfunction to ensure prompt intervention.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261486686"},"PeriodicalIF":1.3,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148914348","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":"Allergic Inflammation and the IL-33/ST2 Axis in Childhood Asthma: A Narrative Review of Related Pathways and Intervention Strategies.","authors":"Yi Zou, Denian Wen, Cheng Wang, Heng Wang, Qionghua Wu","doi":"10.1177/2151321X261475430","DOIUrl":"https://doi.org/10.1177/2151321X261475430","url":null,"abstract":"<p><p><i>Background:</i> Pediatric asthma is the most common disease in children, and its incidence is increasing globally. Its clinical features are usually wheezing, dyspnea, cough, and increased airway sensitivity. Exposure to dust mites in the living environment, air pollutants, and virus infections can lead to asthma. Currently, the main clinical treatment options include environmental interventions, glucocorticoids, anti-allergy drugs, and biologics targeting type-2 inflammation. However, challenges remain due to the complexity of the etiology and pathobiology of pediatric asthma.<i>Results:</i> Interleukin-33 (IL-33) is an important member of the IL-1 cytokine family, which is produced mainly by epithelial cells and endothelial cells and binds to the receptor ST2. In inflammatory responses, IL-33/ST2 mediates the activation and recruitment of immune cells, including Th2 cells, mast cells, and eosinophils. Recent studies have revealed that IL-33/ST2 plays a crucial role in allergic asthma. This review systematically summarizes the changes in the expression of the IL-33/ST2 signaling axis and its core pathogenic mechanisms during the occurrence and development of allergic asthma. Moreover, we summarize the current clinical intervention strategies for childhood allergic asthma, aiming to provide new insights for the treatment of this disease.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261475430"},"PeriodicalIF":1.3,"publicationDate":"2026-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148702620","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":"Prevalence and Risk Factors of Sleep Disordered Breathing in School-Aged Children with Bronchopulmonary Dysplasia.","authors":"Reece Klusza, Morgan Ryan, Suzanne E Dahlberg, Deja Cunningham, River Corrado, Izabelle Ith, Umakanth Katwa, Jonathan Gaffin, Seyni Gueye-Ndiaye","doi":"10.1177/2151321X261475048","DOIUrl":"10.1177/2151321X261475048","url":null,"abstract":"<p><p><i>Introduction:</i>Sleep-disordered breathing (SDB) affects 1-5% of children, causing neurocognitive impairment, behavioral problems, and cardiovascular complications. Children with bronchopulmonary dysplasia (BPD) may have heightened SDB risk due to chronic lung disease, but prevalence and risk factors remain poorly characterized. This study describes SDB prevalence and evaluates associations with health factors (asthma, rhinitis, second-hand smoke exposure, overweight/obesity), neonatal history, and oropharyngeal crowding among school-age children (6-12 years) with BPD.<i>Materials and Methods:</i>Cross-sectional analyses were performed on children enrolled in the Indoor Air Quality and Respiratory Morbidity in School-Aged Children with BPD (AERO-BPD) study. Elevated SDB risk and symptom burden were defined by a Pediatric Sleep Questionnaire-Sleep-Related Breathing Disorder (PSQ-SRBD) total or subscale (snoring, sleepiness, hyperactivity) scores >0.33. Using logistic regression, we calculated associations between risk factors and elevated PSQ-SRBD scores.<i>Results:</i>Among 142 children (18% Hispanic, 14% Black or African American, 52% White or Caucasian, 14% Other), 34% had elevated PSQ-SRBD scores. Asthma was associated with 4-fold higher odds for SDB and 6-fold higher odds for snoring symptoms, odds ratio (OR): 3.75 (95% CI: 1.33, 10.58) and 6.22 (1.13, 34.36), respectively. Female gender and overweight/obese status increased odds of elevated snoring symptoms, whereas higher gestational reduced odds of snoring symptoms. Hispanic ethnicity was associated with increased sleepiness symptoms.<i>Discussion:</i>SDB is highly prevalent (34%) in school-aged children with BPD and associated with multiple modifiable health factors, particularly asthma. Providers should routinely screen children with BPD for SDB. Future research in larger samples is needed to characterize SDB mechanisms in children to develop targeted interventions.<i>Contributions to Literature:</i>This study provides comprehensive characterization of SDB prevalence and risk factors in school-aged children with BPD, identifying asthma as a key modifiable risk factor and establishing the foundation for screening guidelines in this vulnerable population.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261475048"},"PeriodicalIF":1.3,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13640027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148698054","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":"Clinical Follow-Up, Etiology, and Predictors of Progression to Chronic Urticaria in Children with Acute Urticaria: A Guideline-Based Study.","authors":"Gülçin Nimet Özdemir, Leman Tuba Karakurt, Esen Besli, Özlem Cavkaytar, Mustafa Arga","doi":"10.1177/2151321X261470202","DOIUrl":"https://doi.org/10.1177/2151321X261470202","url":null,"abstract":"<p><p><i>Background:</i>Acute urticaria (AU) is a common dermatologic emergency in children, frequently leading to unnecessary diagnostic work-up and treatment. Although usually self-limited, approximately 5%-10% of pediatric AU cases are reported to progress to chronic urticaria (CU). Evidence-based data on etiologic causes, real-world adherence to current guidelines, and predictors of chronicity in pediatric AU remain limited. We aimed to evaluate the diagnostic approaches, etiological factors, and treatment outcomes at initial presentation of pediatric AU, and to identify predictors of progression to CU during follow-up.<i>Methods:</i>This single-center prospective cohort study included 210 pediatric patients diagnosed with first-episode AU (median age: 5.4 years [interquartile range (IQR): 2.6-8.0], 54.8% male). Etiologic assessment, diagnostic testing, and treatment were performed according to the European Academy of Allergy and Clinical Immunology, Global Allergy and Asthma European Network, and Asia Pacific Association of Allergy, Asthma and Clinical Immunology guidelines. Suspected and confirmed triggers were recorded. Patients were followed for a median duration of 5 months (IQR: 1.5-8), with a range of 1.5-14 months. Logistic regression was used to identify predictors of CU.<i>Results:</i>A suspected trigger was identified in 63.3% of cases, and a confirmed etiology was established in 61% after diagnostic evaluation. Infections were the leading cause (55.2%), followed by physical stimuli (5.2%) and food (0.5%). No drug-induced urticaria was confirmed. Sixty-five and seventh tenths percent of patients required no diagnostic testing, and 95.2% achieved complete remission with standard antihistamine treatment. Only 4.8% progressed to CU during follow-up. Urticaria lasting more than 7 days (odds ratio [OR]: 14.1, 95% confidence interval [CI]: 2.62-75.73, <i>P</i> = 0.002) and physical stimuli (OR: 22.8, 95% CI: 2.95-177.19, <i>P</i> = 0.003) independently predicted CU, while age, atopy, and baseline severity were not associated.<i>Conclusion:</i>Guideline-based conservative management provides excellent outcomes with minimal testing. Prolonged duration and physical stimuli are key predictors for chronic progression, underscoring the importance of close follow-up in these patients.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261470202"},"PeriodicalIF":1.3,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148521333","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 Dysglycemia Detected by Continuous Glucose Monitoring in a 6-Year-Old Child with Cystic Fibrosis: A Case Report.","authors":"Busra Baspinar, Merve Nur Tekin, Ayşe Özfer Özçelik, Nazan Çobanoğlu","doi":"10.1177/2151321X261469365","DOIUrl":"https://doi.org/10.1177/2151321X261469365","url":null,"abstract":"<p><p><i>Background:</i>Cystic fibrosis-related diabetes (CFRD) screening is typically recommended from age 10, yet glucose abnormalities may emerge earlier. Conventional screening tools may fail to detect dysglycemia in young children with cystic fibrosis (CF).<i>Case Presentation:</i>A 6-year-old girl with CF and severe pancreatic insufficiency underwent 14-day continuous glucose monitoring (CGM) as part of an observational study on glucose metabolism in pediatric CF patients.<i>Results:</i>CGM detected marked glycemic variability (38.4%), a mean glucose level of 192 mg/dL, and a time in range of 56%, despite only mildly elevated fasting glucose values. Laboratory workup confirmed CFRD (glycated hemoglobin 8.8%). After insulin initiation, pulmonary function improved substantially, with forced expiratory volume increasing from 76% to 97% of predicted within 2 months.<i>Conclusions:</i>CGM may identify clinically significant dysglycemia in young children with CF who would otherwise go undetected by age-based screening. In selected high-risk pediatric CF patients below the standard screening age, CGM may enable earlier diagnosis and timely intervention-a clinical question that warrants prospective investigation.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261469365"},"PeriodicalIF":1.3,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148439014","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":"Homozygous <i>DIAPH1</i> Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin Lymphoma.","authors":"Ali Özlem, Seda Şirin, Kezban İpek Demir, Abdulkerim Kolkıran, Ahmet Kablan, Ezgi Ulusoy Severcan, Zülfikar Akelma","doi":"10.1177/2151321X261469418","DOIUrl":"https://doi.org/10.1177/2151321X261469418","url":null,"abstract":"<p><p><i>Background:</i>Diaphanous-related formin 1 (<i>DIAPH1</i>) is a cytoskeletal protein belonging to the formin family. Homozygous loss-of-function variants in <i>DIAPH1</i> have been associated with seizures, cortical blindness, mitochondrial dysfunction, and combined immunodeficiency. Here, we report a rare case of homozygous <i>DIAPH1</i> deficiency presenting with the classical clinical features of the disorder but without cortical blindness.<i>Case Presentation:</i>An 11-year-old male patient presented with a productive cough. His computed tomography scan revealed diffuse bronchiectasis and chronic parenchymal infiltrative lesions. Respiratory examination revealed bilateral crackles. Ophthalmologic examination and visual field testing were normal. Laboratory evaluation showed elevated serum IgG and IgE levels, whereas the IgA level was within the normal reference range and the IgM level was decreased for his age. Vaccine responses to hepatitis B and rubella were adequate; however, the isohemagglutinin titer against the blood group was insufficient. Lymphopenia was detected in the complete blood count. Although CD3⁺, CD4⁺, and CD8⁺ T cell, B cell, and natural killer cell counts were within normal ranges, class-switched memory B cells and recent thymic emigrants (CD4⁺CD45RA⁺CD31⁺) were significantly reduced. Next-generation sequencing-based targeted gene panel analysis, performed with a preliminary diagnosis of immunodeficiency, identified a homozygous nonsense variant, c.1051C > T (p.Arg351*), in exon 11 (11/15) of the <i>DIAPH1</i> (NM_005219) gene. Epstein-Barr virus (EBV)-associated classical Hodgkin lymphoma subsequently developed in the patient, and chemotherapy was initiated.<i>Conclusions:</i>This is the first case of homozygous <i>DIAPH1</i> deficiency presenting without cortical blindness. Homozygous <i>DIAPH1</i> deficiency may present with a broad clinical spectrum and phenotypic variability, highlighting an increased susceptibility to EBV infection and virus-associated malignancies. Comprehensive immunological evaluation and close, long-term follow-up are essential for affected patients.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261469418"},"PeriodicalIF":1.3,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148426529","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":"Prevalence of Atopic Disease in Pediatric Patients with Hypermobile Ehlers-Danlos Syndrome.","authors":"Jordan T Jones, Kathleen G Click, Ashley Lytch","doi":"10.1177/2151321X261467509","DOIUrl":"https://doi.org/10.1177/2151321X261467509","url":null,"abstract":"<p><p><i>Background:</i>The Ehlers-Danlos syndromes (EDSs) are a group of connective tissue disorders characterized by skin laxity and hypermobile joints. EDS is associated with many comorbidities that often necessitate multidisciplinary care. Adults with EDS report more atopic conditions such as allergic rhinitis and asthma; however, gaps exist around the prevalence of atopic conditions in pediatric patients with EDS. The objective of this study was to determine the prevalence of atopic conditions (allergies, asthma, and atopic dermatitis) in pediatric patients with hypermobile EDS (hEDS) and compare it to the general pediatric population in the United States.<i>Methods:</i>A convenience sample of 149 patients aged 8-22 years, with a diagnosis of hEDS and atopic disease was evaluated. Atopic conditions and medication use were reviewed.<i>Results:</i>Patients were mostly females (85%) and Caucasian (89%) with an average age of 15.5 years (standard deviation: 3.1). Many patients had allergic rhinitis (46%); medication allergies (44%), with antibiotics as the most common; and asthma (39%), mild intermittent as the most common severity. All prevalences were higher compared to the general United States pediatric population except for atopic dermatitis.<i>Conclusions:</i>There was an increased prevalence of atopic conditions in pediatric patients with hEDS compared to the United States pediatric population. Due to the increased prevalence of atopic conditions, health care providers should be aware of and monitor for signs of atopic and allergic conditions in pediatric patients with hEDS. Allergy and pulmonology specialists should be considered in the management of pediatric patients with hEDS if symptoms are present.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":" ","pages":"2151321X261467509"},"PeriodicalIF":1.3,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406960","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":"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}