Background: 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. Results: 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.
Introduction: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.Materials and Methods: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.Results: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.Discussion: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.Contributions to Literature: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.
Background: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.Methods: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.Results: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, P = 0.002) and physical stimuli (OR: 22.8, 95% CI: 2.95-177.19, P = 0.003) independently predicted CU, while age, atopy, and baseline severity were not associated.Conclusion: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.
Background: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).Case Presentation: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.Results: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.Conclusions: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.
Introduction: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.Case Presentation: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.Conclusion: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.
Background: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.Materials and Methods: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.Results: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.Conclusion: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.
Introduction: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.Patients and Methods:Nineteen pediatric patients diagnosed with AT between 2003 and 2024 were retrospectively analyzed at a single tertiary center.Results: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.Conclusion: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.
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.
Background: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.Case Presentation: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 Escherichia coli 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.Conclusions: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.
Background: 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.Methods: This review summarizes current evidence on the epidemiology, mechanisms, and long-term impact of early viral LRTIs.Results: 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.
Introduction: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).Case Presentation: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 Dermatophagoides pteronyssinus and Dermatophagoides farinae, 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.Discussion: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.Conclusion: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.
Measles is a highly contagious, vaccine-preventable infectious disease. The incidence of measles has been rising due to a confluence of factors, including international travel and vaccine hesitancy. The purpose of this Pharmacotherapy Update was to examine and appraise preventive measures and treatment options, both pharmacotherapy and supplements, used in measles management. Topics included ribavirin, measles-mumps-rubella vaccine post-exposure prophylaxis, immune globulin, antibiotics, vitamin A, and cod liver oil supplements. Parents, caregivers, and policymakers considering these interventions are recommended to consult with health care providers and seek guidance from professional organizations regarding the effectiveness and safety of these treatments. Vaccination with the measles-mumps-rubella vaccine remains the most effective intervention to prevent measles, and efforts are urgently needed to achieve the requisite 95% vaccination rate to improve public health, confer herd immunity, and eradicate measles.
Background: Bronchopulmonary dysplasia (BPD), a common pulmonary condition in infants causing neonatal death, has a complicated pathogenic mechanism. As the new iron-dependent cell death type, ferroptosis can result from lipid peroxidation and exert a critical effect on the pathogenic mechanism of BPD. This study aimed to investigate ferroptosis-related genes with regard to their expression patterns and functional roles in BPD. Methods: Clinical and gene expression data were obtained based on the Gene Expression Omnibus (GEO) database, and the web-based analysis approach GEO2R was used for selecting differentially expressed genes (DEGs). For significant ferroptosis-related DEGs (FDEGs), their bioinformatic functions and molecular interactions were explored using the WEB-based Gene Set Analysis Toolkit (WebGestalt) and Metascape, protein-protein interaction network analysis, and Kyoto Encyclopedia of Genes and Genomes enrichment. In addition, hub FDEG expression levels in BPD were verified through quantitative reverse transcription polymerase chain reaction (RT-qPCR). Results: There were totally 3,673 DEGs detected in BPD infants compared with controls, including 36 FDEGs with upregulation, whereas 13 with downregulation. Functional enrichment analysis revealed the significant activation of biological processes in response to stress and ferroptosis. Through RT-qPCR validation, five hub FDEGs were identified, including mitogen-activated protein kinase 14 (MAPK14), tumor antigen p53 (TP53), signal transducer and activator of transcription 3 (STAT3), toll-like receptor 4 (TLR4), and dual-specificity protein phosphatase 1 (DUSP1). Based on the outcomes of receiver operating characteristic curve analysis, the area under the curve values of these genes were >0.7, revealing that they might be used to identify BPD. Conclusions: The results in this study shed more insights on the diagnosis and mechanism of ferroptosis in BPD. Further research should be carried out to assess its clinical utility.
Introduction: The aim of this study was to determine the frequency and risk factors of allergic adverse reaction following measles-mumps-rubella (MMR) vaccination in children with egg and/or cow's milk allergies. Methods: Children with cow's milk and/or egg allergy were included. Patients with IgE-mediated cow's milk allergy were subjected to skin tests with MMR vaccines before vaccination. For patients with a positive skin test, administration of an alternative vaccine not containing the suspected excipient was planned. In case an alternative vaccine is not available, the MMR vaccine is planned to be administered with a gradual desensitization protocol. Results: Two hundred two patients (133 male and 69 female) with a mean age of 14.9 ± 11.9 months were evaluated. Of the patients, 126 (62.4%) received Tresivac®, while 76 (37.6%) received Priorix®. Before vaccination, 84 patients underwent skin testing with the vaccine, and the test was positive in 7 patients. Allergic reactions were observed in 12 patients (urticaria in 10 patients, angioedema in 1 patient, and anaphylaxis in 1 patient). Egg white-specific IgE (spIgE) levels were found to be higher in patients with egg-allergy who developed allergic reactions to MMR vaccines. The receiver operating characteristic (ROC) analysis identified a cut-off value of 6.5 kU/L for egg white-spIgE. In patients who developed allergic reactions following alpha-lactalbumin-containing vaccine, egg white-spIgE and cow's milk-spIgE levels were significantly higher compared with those without reactions. In the ROC analysis for predicting allergic reactions following Tresivac® vaccination, the cut-off values were as follows: egg white-spIgE: 6 kU/L, cow's milk-spIgE: 12.5 kU/L. Conclusion: It was determined that the cut-off values for cow's milk and egg white spIgE were found to be significant in identifying children at risk for allergic reactions following MMR vaccination. Children with food allergies who had a family history of atopy were found to have a higher risk of allergic reactions.
Background: Oscillation and lung expansion (OLE) therapy delivers both continuous high-frequency oscillation and continuous positive expiratory pressure. This therapy aids in both mobilizing secretions and lung expansion. Objective data about the chronic use of this therapy in the outpatient setting in pediatric patients are limited. Case Presentation: We identified 3 patients in our pediatric pulmonology clinic, each with different underlying conditions, who had used home OLE therapy for at least 1 year and were able to perform spirometry. We compared forced expiratory volume in 1 second (FEV1) in the year prior to therapy with the following year after starting therapy. Patients A, B, and C had a mean FEV1 percent predicted improvement in the year after starting therapy of 19.3%, 13.6%, and 30.5%, respectively. Conclusion: Substantial and sustained improvements in lung function were observed with the addition of OLE to standard-of-care therapies. Larger studies are needed to confirm these findings.
Introduction: 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). Case Report: 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. Conclusions: 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.
Background: 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. Case Presentation: 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). Conclusions: 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.
Background: Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a rare, potentially life-threatening hypersensitivity reaction characterized by skin rash, fever, eosinophilia, and multi-organ involvement. Although pulmonary complications are uncommon, they can significantly impact prognosis. Case Presentation: Here, we present a 6-year-old male with antibiotic-induced DRESS syndrome complicated by pleural effusion and pneumonitis. The patient was treated successfully with systemic corticosteroids and intravenous immunoglobulin following multidisciplinary evaluation. Conclusion: Pulmonary involvement in DRESS is frequently mistaken for pneumonia. This case highlights the importance of recognizing pulmonary involvement in DRESS syndrome and differentiating it from bacterial pneumonia, as misdiagnosis may lead to delayed corticosteroid treatment and unnecessary antibiotic use.
Patients with pathogenic variants of lipopolysaccharide-responsive beige-like anchor protein (LRBA) are known to present with autoimmune diseases, inflammatory bowel disease, lymphoproliferative disorders, allergies, immunodeficiency, and malignancies. This condition, characterized by widespread infections that impact multiple systems, has various radiological findings reported in the literature. These include computed tomography (CT) findings indicating lung involvement and magnetic resonance imaging (MRI) findings showing neurological system involvement. However, F-18 fluorodeoxyglucose positron emission tomography-CT (FDG PET-CT) imaging findings in LRBA deficiency have not yet been described in the literature. This report presents multiple organ involvements detected by F-18 FDG PET-CT in a case with an LRBA gene variant. FDG PET-CT findings for diagnostic and primary focus evaluation were reviewed in a 17-year-old male patient with a pathogenic LRBA variant, prompted by multiple hypoechoic nodular appearances identified on abdominal ultrasonography. In this patient, who carried a pathogenic LRBA variant (c.3396-3397delAC, p.D975Yfs*15) and was treated with abatacept for liver involvement, FDG PET-CT revealed a wide range of system involvements. These included the lungs, liver, intestines, bone, bone marrow, and lymph nodes, as well as multiple joints and tendons. In immunodeficiency diseases with such extensive multisystem involvement, whole-body imaging techniques like F-18 FDG PET-CT can serve as valuable tools for physicians to comprehensively assess the disease and formulate effective treatment strategies.
