{"title":"A case of Pneumocystis jirovecii pneumonia in an infant with incontinentia pigmenti.","authors":"Emily R Merritt, Nurcicek Padem, Muayad M Alali","doi":"10.1111/pai.70089","DOIUrl":"10.1111/pai.70089","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70089"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028130","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity response to the allergens of Aspergillus fumigatus, which is the most frequently isolated fungus from the sputum of cystic fibrosis (CF) patients. Because a low number of Th17 lymphocytes is associated with the risk of fungal infections, we investigated inflammatory markers, Th17 cells, and T-cell polarization in CF patients with ABPA.
Methods: We analyzed the levels of inflammatory markers, blood counts, chemokines, cytokines, and T cell subsets in blood and sputum of CF subjects to elucidate the immunological factors associated with CF patients with Aspergillus fumigatus (AF) positive sputum (AFS+) or with ABPA.
Results: We observed that AFS+ patients have higher sputum and blood IL-6 levels than AF-negative sputum (AFS-) patients. Analysis of blood memory T-helper subsets associated with Th1, Th2, and Th17 polarization among circulating CD45RA-/CD4+ memory T-cell subsets showed higher numbers of CCR4+/CCR6+/CXCR3- and CCR4+/CCR6+/CXCR3+ memory CD4 cells in AFS+ compared to AFS- subjects. Further analysis of Th17-related subsets and IL-17 secreting T cells in subjects with AFS+ showed that those with ABPA have statistically significantly lower levels of Th17 cells as compared to those without ABPA.
Conclusion: In CF, AF airway colonization is associated with increased blood counts of Th17-related subsets. However, CF patients with ABPA exhibit lower numbers of CCR4+/CCR6+/CXCR3+ memory CD4 cells and IL-17-secreting CD4 cells compared to control subjects and CF patients without AF sensitization.
{"title":"Low Th17 cells in patients with cystic fibrosis and allergic broncho-pulmonary aspergillosis.","authors":"Silviana Timpano, Irene Bellicini, Piercarlo Poli, Daniele Moratto, Manuela Cortesi, Marta Salvi, Marco Chiarini, Rita Padoan, Ramona Pezzotta, Simona Fiorentini, Arnaldo Caruso, Mauro Giacomelli, Raffaele Badolato","doi":"10.1111/pai.70090","DOIUrl":"10.1111/pai.70090","url":null,"abstract":"<p><strong>Background: </strong>Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity response to the allergens of Aspergillus fumigatus, which is the most frequently isolated fungus from the sputum of cystic fibrosis (CF) patients. Because a low number of Th17 lymphocytes is associated with the risk of fungal infections, we investigated inflammatory markers, Th17 cells, and T-cell polarization in CF patients with ABPA.</p><p><strong>Methods: </strong>We analyzed the levels of inflammatory markers, blood counts, chemokines, cytokines, and T cell subsets in blood and sputum of CF subjects to elucidate the immunological factors associated with CF patients with Aspergillus fumigatus (AF) positive sputum (AFS<sup>+</sup>) or with ABPA.</p><p><strong>Results: </strong>We observed that AFS+ patients have higher sputum and blood IL-6 levels than AF-negative sputum (AFS<sup>-</sup>) patients. Analysis of blood memory T-helper subsets associated with Th1, Th2, and Th17 polarization among circulating CD45RA-/CD4+ memory T-cell subsets showed higher numbers of CCR4<sup>+</sup>/CCR6<sup>+</sup>/CXCR3<sup>-</sup> and CCR4<sup>+</sup>/CCR6<sup>+</sup>/CXCR3<sup>+</sup> memory CD4 cells in AFS+ compared to AFS<sup>-</sup> subjects. Further analysis of Th17-related subsets and IL-17 secreting T cells in subjects with AFS+ showed that those with ABPA have statistically significantly lower levels of Th17 cells as compared to those without ABPA.</p><p><strong>Conclusion: </strong>In CF, AF airway colonization is associated with increased blood counts of Th17-related subsets. However, CF patients with ABPA exhibit lower numbers of CCR4+/CCR6+/CXCR3+ memory CD4 cells and IL-17-secreting CD4 cells compared to control subjects and CF patients without AF sensitization.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70090"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12002360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shay Nemet, Daniel Elbirt, Ramon Cohen, Keren Mahlab-Guri, Shira Bezalel-Rosenberg, Ilan Asher, Limor Rubin, Aviv Talmon, Yaarit Ribak, Ruslan Sergienko, Yuval Tal, Oded Shamriz
Background: Immunoglobulin (Ig)E deficiency (<2.5 IU/mL) in adults is linked to higher risks of cancer and autoimmunity, but its significance in children remains unclear. This study evaluates the clinical importance of IgE deficiency in a nationwide pediatric cohort.
Methods: A retrospective, population-based study included 123,393 Israeli children tested for IgE levels between 2002 and 2022. Participants were categorized into four groups: deficient (<2.5 IU/mL), normal (2.5-100 IU/mL), high (100-1000 IU/mL), and very high (≥1000 IU/mL). Outcomes included cancer, inborn errors of immunity (IEI), and autoimmune disorders, with up to 5 years of follow-up. The data were analyzed using univariable methods and multivariable Cox regression.
Results: Among the cohort, 2114 children (1.71%) had IgE deficiency, with a mean age of 3.73 years. Most (95.60%) were tested only once. IgE deficiency was associated with increased risks of solid tumors (HR = 2.721; 95% CI: 1.313-5.638), IEI (HR = 1.646; 95% CI: 1.095-2.474), and autoimmune disorders (HR = 1.266; 95% CI: 1.099-1.458) compared to normal IgE levels. No link was found between IgE deficiency and hematological malignancies. Selective IgM deficiency was the most common IEI associated with IgE deficiency (40%). Asthma prevalence was highest in children with very high IgE (N = 5574; 57.01%) and lowest in the normal IgE group (N = 24,171; 38.91%). The IgE-deficient group fell in the middle range (N = 903; 42.72%). In IgE-deficient children, allergic rhinitis was less common (11.26% vs. 14.09%).
Conclusion: IgE deficiency in children is associated with higher risks of solid tumors, autoimmune disorders, and IEI, suggesting potential immune dysregulation. Close monitoring of IgE-deficient children should be considered.
{"title":"IgE deficiency (<2.5 IU/mL) in children: Clinical insights from a population-based study of 123,393 subjects.","authors":"Shay Nemet, Daniel Elbirt, Ramon Cohen, Keren Mahlab-Guri, Shira Bezalel-Rosenberg, Ilan Asher, Limor Rubin, Aviv Talmon, Yaarit Ribak, Ruslan Sergienko, Yuval Tal, Oded Shamriz","doi":"10.1111/pai.70092","DOIUrl":"10.1111/pai.70092","url":null,"abstract":"<p><strong>Background: </strong>Immunoglobulin (Ig)E deficiency (<2.5 IU/mL) in adults is linked to higher risks of cancer and autoimmunity, but its significance in children remains unclear. This study evaluates the clinical importance of IgE deficiency in a nationwide pediatric cohort.</p><p><strong>Methods: </strong>A retrospective, population-based study included 123,393 Israeli children tested for IgE levels between 2002 and 2022. Participants were categorized into four groups: deficient (<2.5 IU/mL), normal (2.5-100 IU/mL), high (100-1000 IU/mL), and very high (≥1000 IU/mL). Outcomes included cancer, inborn errors of immunity (IEI), and autoimmune disorders, with up to 5 years of follow-up. The data were analyzed using univariable methods and multivariable Cox regression.</p><p><strong>Results: </strong>Among the cohort, 2114 children (1.71%) had IgE deficiency, with a mean age of 3.73 years. Most (95.60%) were tested only once. IgE deficiency was associated with increased risks of solid tumors (HR = 2.721; 95% CI: 1.313-5.638), IEI (HR = 1.646; 95% CI: 1.095-2.474), and autoimmune disorders (HR = 1.266; 95% CI: 1.099-1.458) compared to normal IgE levels. No link was found between IgE deficiency and hematological malignancies. Selective IgM deficiency was the most common IEI associated with IgE deficiency (40%). Asthma prevalence was highest in children with very high IgE (N = 5574; 57.01%) and lowest in the normal IgE group (N = 24,171; 38.91%). The IgE-deficient group fell in the middle range (N = 903; 42.72%). In IgE-deficient children, allergic rhinitis was less common (11.26% vs. 14.09%).</p><p><strong>Conclusion: </strong>IgE deficiency in children is associated with higher risks of solid tumors, autoimmune disorders, and IEI, suggesting potential immune dysregulation. Close monitoring of IgE-deficient children should be considered.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70092"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Meg O Sullivan, Margaret Curtin, Rachel Flynn, Juan Trujillo, James O Mahony
{"title":"Reply to Shaharyar et al.","authors":"Meg O Sullivan, Margaret Curtin, Rachel Flynn, Juan Trujillo, James O Mahony","doi":"10.1111/pai.70083","DOIUrl":"10.1111/pai.70083","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70083"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143812118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Editorial comment on \"When I became older, I started having to manage that more myself\"-Experiences of adolescents with food allergies: A qualitative study.","authors":"Ashna Asim, Carmen Riggioni, Philippe Eigenmann","doi":"10.1111/pai.70091","DOIUrl":"10.1111/pai.70091","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70091"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Caroline Halley, Janice Kang, Phillipa Barnes, Michael Keall, Robert Siebers, Cheryl Davies, Philippa Howden-Chapman, Julian Crane
Background: Various observational studies have suggested that infants and young children who regularly sleep in synthetic bedding materials are more likely to experience wheezing and asthma, while children who use feather duvets and/or feather pillows are less likely to wheeze.
Methods: In Wellington, New Zealand, we conducted a three-armed, parallel, randomised trial of 460 infants who were assigned to use different bedding materials: synthetic, wool or feather bedding in the form of sleepsacks from 3 months of age to 2 years of age to test the hypothesis that children exposed to feather materials are less likely to develop wheezing. Pregnant women were recruited before birth. Parents were unaware of the primary research hypothesis and were told this was a study of child warmth and wheezing. We have reported wheezing (parental and GP), a variety of respiratory health parameters and atopic status at 2 years.
Results: One hundred and forty-seven infants received a synthetic sleepsack, 150 wool and 144 feather. We have found no significant differences in reported or doctor-diagnosed wheezing or other respiratory health measures by bedding material used. For frequency of wheezing presentation at GP surgery, there was a significant increased rate for children using feather materials compared to synthetic, relative rate 2.00 (95% CI: 1.14, 3.52).
Conclusion: This study does not support earlier observational studies that suggest higher rates of wheezing for children using synthetic bedding or lower rates for feather materials, at least for early childhood wheezing. Our study suggests that the explanation for the observational study findings may lie in selection bias, where the parents of at-risk children avoid feather bedding materials.
{"title":"Bedding materials and early infant wheezing: A randomised controlled trial.","authors":"Caroline Halley, Janice Kang, Phillipa Barnes, Michael Keall, Robert Siebers, Cheryl Davies, Philippa Howden-Chapman, Julian Crane","doi":"10.1111/pai.70073","DOIUrl":"10.1111/pai.70073","url":null,"abstract":"<p><strong>Background: </strong>Various observational studies have suggested that infants and young children who regularly sleep in synthetic bedding materials are more likely to experience wheezing and asthma, while children who use feather duvets and/or feather pillows are less likely to wheeze.</p><p><strong>Methods: </strong>In Wellington, New Zealand, we conducted a three-armed, parallel, randomised trial of 460 infants who were assigned to use different bedding materials: synthetic, wool or feather bedding in the form of sleepsacks from 3 months of age to 2 years of age to test the hypothesis that children exposed to feather materials are less likely to develop wheezing. Pregnant women were recruited before birth. Parents were unaware of the primary research hypothesis and were told this was a study of child warmth and wheezing. We have reported wheezing (parental and GP), a variety of respiratory health parameters and atopic status at 2 years.</p><p><strong>Results: </strong>One hundred and forty-seven infants received a synthetic sleepsack, 150 wool and 144 feather. We have found no significant differences in reported or doctor-diagnosed wheezing or other respiratory health measures by bedding material used. For frequency of wheezing presentation at GP surgery, there was a significant increased rate for children using feather materials compared to synthetic, relative rate 2.00 (95% CI: 1.14, 3.52).</p><p><strong>Conclusion: </strong>This study does not support earlier observational studies that suggest higher rates of wheezing for children using synthetic bedding or lower rates for feather materials, at least for early childhood wheezing. Our study suggests that the explanation for the observational study findings may lie in selection bias, where the parents of at-risk children avoid feather bedding materials.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70073"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143754078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francisca de Castro Mendes, Milton Severo, Inês Paciência, Carla Lopes, Ana Cristina Santos, Henrique Barros, André Moreira, Pedro Moreira
{"title":"Reply to Prof. Tiejuan Shao et al.","authors":"Francisca de Castro Mendes, Milton Severo, Inês Paciência, Carla Lopes, Ana Cristina Santos, Henrique Barros, André Moreira, Pedro Moreira","doi":"10.1111/pai.70093","DOIUrl":"10.1111/pai.70093","url":null,"abstract":"","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70093"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144018990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D Zama, A Paccapelo, L Betti, E Manieri, M Paglione, M Rinaldi, A Dondi, E Battelli, C Biagi, C Marchegiani Rizzolli, P Manzoni, G Piglia, G Nicolini, M Lanari, C Carbone
Background: Acute bronchiolitis is the leading cause of hospitalization in infants, and air pollutants represent a risk factor for its development. This work aims to investigate the role of air pollution, considering conventional and nonconventional indicators, in the development of bronchiolitis in three urban areas in the Po Valley, Northern Italy.
Methods: This multicentric, observational, retrospective, cohort study included infants under 12 months who were referred to the Pediatric Emergency Department of Bologna, Belluno, and Biella and diagnosed with bronchiolitis from 2016 to 2019. Data on daily ground-level mass concentrations of particulate matter (PM10 and PM2.5) and gaseous pollutants in the three areas, and additionally of organic carbon (OC) and elemental carbon (EC) in Bologna, were retrieved and assessed for possible relationships with the occurrence of bronchiolitis.
Results: A total of 1316 patients were enrolled. All conventional air quality indicators (NO2, PM10, and PM2.5) showed statistically significant associations with the occurrence of referrals due to bronchiolitis. The highest impacts were observed for OC and EC, the carbonaceous components of PM, which were only measured in Bologna. Considering the conventional indicators, the strongest associations were found between 4-week moving average concentrations and weekly hospital admission, and the strongest associations were found considering NO2 and PM2.5.
Conclusion: This study indicates that medium-term exposure to higher levels of air pollution increases the risk of the development of bronchiolitis. In particular, the best association results between bronchiolitis admissions and the exposure to the carbonaceous fraction of PM2.5.
{"title":"The influence of air pollutants on the risk of emergency department presentations of infants with bronchiolitis in an European air quality hotspot.","authors":"D Zama, A Paccapelo, L Betti, E Manieri, M Paglione, M Rinaldi, A Dondi, E Battelli, C Biagi, C Marchegiani Rizzolli, P Manzoni, G Piglia, G Nicolini, M Lanari, C Carbone","doi":"10.1111/pai.70077","DOIUrl":"10.1111/pai.70077","url":null,"abstract":"<p><strong>Background: </strong>Acute bronchiolitis is the leading cause of hospitalization in infants, and air pollutants represent a risk factor for its development. This work aims to investigate the role of air pollution, considering conventional and nonconventional indicators, in the development of bronchiolitis in three urban areas in the Po Valley, Northern Italy.</p><p><strong>Methods: </strong>This multicentric, observational, retrospective, cohort study included infants under 12 months who were referred to the Pediatric Emergency Department of Bologna, Belluno, and Biella and diagnosed with bronchiolitis from 2016 to 2019. Data on daily ground-level mass concentrations of particulate matter (PM<sub>10</sub> and PM<sub>2.5</sub>) and gaseous pollutants in the three areas, and additionally of organic carbon (OC) and elemental carbon (EC) in Bologna, were retrieved and assessed for possible relationships with the occurrence of bronchiolitis.</p><p><strong>Results: </strong>A total of 1316 patients were enrolled. All conventional air quality indicators (NO<sub>2</sub>, PM<sub>10</sub>, and PM<sub>2.5</sub>) showed statistically significant associations with the occurrence of referrals due to bronchiolitis. The highest impacts were observed for OC and EC, the carbonaceous components of PM, which were only measured in Bologna. Considering the conventional indicators, the strongest associations were found between 4-week moving average concentrations and weekly hospital admission, and the strongest associations were found considering NO<sub>2</sub> and PM<sub>2.5</sub>.</p><p><strong>Conclusion: </strong>This study indicates that medium-term exposure to higher levels of air pollution increases the risk of the development of bronchiolitis. In particular, the best association results between bronchiolitis admissions and the exposure to the carbonaceous fraction of PM<sub>2.5</sub>.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70077"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11963223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Invasive fungal disease (IFD) is a common complication observed in inborn errors of immunodeficiency (IEI) patients, and little is known about the overall prevalence of IFD in IEI patients. We aimed to summarize the fungal spectrum and outcomes of IFDs in a Chinese cohort of hospitalized patients with IEI.
Methods: In this retrospective study, 607 IEI patients hospitalized from January 2018 to June 2022 were included. Demographic, clinical, and fungal infection data and IEI patient characteristics were collected and analyzed according to the IEI classification.
Results: One hundred and two IEI patients were diagnosed with proven or probable IFD. The overall prevalence of IFD was 17% (102/607). There were 29 different genotypes, among which CYBB (25%), CD40LG (9%), and RAG1 (7%) mutations were the most common. Most IFD infections (87/102) were caused by one fungus. Invasive Aspergillus, Pneumocystis jirovecii pneumonia, and Penicillium infections were more commonly observed in patients with congenital defects in phagocytes, immunodeficiencies affecting cellular and humoral immunity, and defects in innate immunity, respectively. Most IFDs observed in IEI patients were single-site infections, most of which were lung infections (74%). Seventeen patients were diagnosed with disseminated IFDs, nine of which were caused by Penicillium. All patients received antifungal treatments. Eight patients (8%) died within 3 months of IFD diagnosis.
Conclusions: IFD occurrence suggests the presence of immunity impairment. The IFD fungal profile may indicate different types of IEI. Early recognition of immunodeficiency and optimal timing of antifungal therapy can reduce fatality in IEI patients.
{"title":"Invasive fungal disease in a large cohort of hospitalized children with inborn errors of immunity in China.","authors":"Haiqiao Zhang, Mi Yang, Wenjing Ying, Jia Hou, Qinhua Zhou, Bijun Sun, Ying Wang, Xiaoying Hui, Lipin Liu, Haili Yao, Jinqiao Sun, Wenjie Wang, Xiaochuan Wang","doi":"10.1111/pai.70074","DOIUrl":"10.1111/pai.70074","url":null,"abstract":"<p><strong>Background: </strong>Invasive fungal disease (IFD) is a common complication observed in inborn errors of immunodeficiency (IEI) patients, and little is known about the overall prevalence of IFD in IEI patients. We aimed to summarize the fungal spectrum and outcomes of IFDs in a Chinese cohort of hospitalized patients with IEI.</p><p><strong>Methods: </strong>In this retrospective study, 607 IEI patients hospitalized from January 2018 to June 2022 were included. Demographic, clinical, and fungal infection data and IEI patient characteristics were collected and analyzed according to the IEI classification.</p><p><strong>Results: </strong>One hundred and two IEI patients were diagnosed with proven or probable IFD. The overall prevalence of IFD was 17% (102/607). There were 29 different genotypes, among which CYBB (25%), CD40LG (9%), and RAG1 (7%) mutations were the most common. Most IFD infections (87/102) were caused by one fungus. Invasive Aspergillus, Pneumocystis jirovecii pneumonia, and Penicillium infections were more commonly observed in patients with congenital defects in phagocytes, immunodeficiencies affecting cellular and humoral immunity, and defects in innate immunity, respectively. Most IFDs observed in IEI patients were single-site infections, most of which were lung infections (74%). Seventeen patients were diagnosed with disseminated IFDs, nine of which were caused by Penicillium. All patients received antifungal treatments. Eight patients (8%) died within 3 months of IFD diagnosis.</p><p><strong>Conclusions: </strong>IFD occurrence suggests the presence of immunity impairment. The IFD fungal profile may indicate different types of IEI. Early recognition of immunodeficiency and optimal timing of antifungal therapy can reduce fatality in IEI patients.</p>","PeriodicalId":19929,"journal":{"name":"Pediatric Allergy and Immunology","volume":"36 4","pages":"e70074"},"PeriodicalIF":4.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}