Immunologic Research最新文献

{"title":"Dual neutralization of TGF-β and IL-21 regulates Th17/Treg balance by suppressing inflammatory signalling in the splenic lymphocytes of Staphylococcus aureus infection-induced septic arthritic mice.","authors":"Rochana Pramanik, Sreya Chattopadhyay, Biswadev Bishayi","doi":"10.1007/s12026-024-09586-2","DOIUrl":"10.1007/s12026-024-09586-2","url":null,"abstract":"<p><p>Septic arthritis (SA) caused by Staphylococcus aureus is a severe inflammatory joint disease, characterized by synovitis accompanied with cartilage destruction and bone erosion. The available antibiotic treatment alone is insufficient to resolve the inflammation that leads to high rates of morbidity and mortality. Among the CD4⁺ T helper lymphocytes, the Th17 and Tregs are key regulators of immune homeostasis. A high Th17 could lead to autoimmunity, whereas an increase in Tregs indicates immunosuppression. Depending on the external cytokine milieu, naïve CD4⁺ T cells transform into either Th17 or Treg cell lineage. TGF-β in the presence of IL-21 produces Th17 cells and drives the inflammatory cascade of reactions. We studied the effects of in vivo neutralization of TGF-β and IL-21 in septic arthritic mice to control arthritic inflammation, which has not been studied before. The arthritic index showed maximum severity in the SA group which substantially reduced in the Ab-treated groups. Flow cytometric analyses of peripheral blood collected from mice at 9DPI revealed the highest Th17/Treg ratio in the SA group but least in the combined-antibody-treated group. TGF-β1 and IL-21 cytokine production from serum, spleen, and synovial tissue homogenates was significantly reduced in the dual Ab-treated group than in the untreated SA group. From the Western blot analyses obtained from splenic lymphocytes at 9 DPI, we elucidated the possible underlying mechanism of interplay in downstream signalling involving the interaction between different STAT proteins and SOCS, NF-κB, RANKL, mTOR, iNOS, and COX-2 in regulating inflammation and osteoclastogenesis. On endogenous blockade with TGF-β and IL-21, the Th17/Treg ratio and resultant arthritic inflammation in SA were found to be reduced. Therefore, maintaining the Th17/Treg balance is critical to eradicate infection as well as suppress excessive inflammation and neutralization of TGF-β and IL-21 could provide a novel therapeutic strategy to treat staphylococcal SA.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"38"},"PeriodicalIF":3.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004761","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":"Irisin-mediated KEAP1 degradation alleviates oxidative stress and ameliorates pancreatitis.","authors":"Nan Tang, Wendi Li, Hezhen Shang, Zhen Yang, Zengyin Chen, Guangjun Shi","doi":"10.1007/s12026-024-09588-0","DOIUrl":"10.1007/s12026-024-09588-0","url":null,"abstract":"<p><p>Oxidative stress (OS) injury is pivotal in acute pancreatitis (AP) pathogenesis, contributing to inflammatory cascades. Irisin, a ubiquitous cytokine, exhibits antioxidant properties. However, the role of irisin in AP remains inconclusive. Our study aims to elucidate irisin expression in AP patients and investigate its mechanism of action to propose a novel treatment strategy for AP. Serum irisin levels in 65 AP patients were quantified using an enzyme-linked immunosorbent assay and correlated with disease severity scores. Core genes implicated in AP-related oxidative stress were identified and screened via bioinformatics analysis. The therapeutic efficacy of irisin in AP was confirmed using a murine cerulein-induced AP model. The intrinsic mechanism of irisin's antioxidative stress action was investigated and verified in pancreatic AR42J cells (Supplementary Fig. 1). Common targets shared by irisin and AP were further validated using a molecular docking model which was constructed for virtual docking analysis. This study investigated alterations in redox status in AP and found a significant reduction in serum irisin levels, correlating inversely with AP severity. In a murine AP model, we showed that irisin triggers an antioxidative stress program via the KEAP1 gene; this process helps reestablish redox balance by decreasing the buildup of reactive oxygen species (ROS) and suppressing the secretion of inflammatory mediators within pancreatic tissues Notably, increased KEAP1 expression counteracted the antioxidative effects of irisin. Our findings unveil a novel therapeutic mechanism for AP, wherein irisin inhibits KEAP1 to alleviate OS. Increasing irisin levels in vivo presents a promising strategy for AP treatment.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"37"},"PeriodicalIF":3.3,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004762","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":"Optimal chemokine receptors for enhancing immune cell trafficking in adoptive cell therapy.","authors":"DoYeon Han, Byung-Kwan Jeong, Jong Moo Hong, Jeong-Han Seo, GunHee Lee, Kwanghee Kim, Chorong Hong, Hyeonjin Lee, Su Min Cha, Jong Hyeok Kim, Taehyun Park, Gyungyub Gong, Hee Jin Lee","doi":"10.1007/s12026-024-09560-y","DOIUrl":"10.1007/s12026-024-09560-y","url":null,"abstract":"<p><p>Recently, a strategy involving the engineering of chemokine receptors on immune cells was developed to optimize adoptive cell therapy (ACT) for solid tumors. Given the variability in chemokine secretion among different tumor types, identifying and modulating the appropriate chemokine receptors is crucial. In this study, we utilized extensive RNA sequencing data from both tumor tissues from The Cancer Genome Atlas and normal tissues from Genotype-Tissue Expression to investigate the expression profiles of chemokines. Through analysis, we identified eight chemokine receptors associated with increased chemokine levels in tumor tissues compared to normal tissues, making them promising candidates for enhancing ACT. Subsequent examination of tumor-infiltrating lymphocytes and chimeric antigen receptor-T cells revealed that five out of the eight candidate chemokine receptors did not exhibit elevated expression in T cells. Among five candidates, we demonstrated that CXCR5 is a particularly promising candidate for enhancing cell migration without compromising cell viability or cytotoxicity. In conclusion, our study underscores the potential of five chemokine receptors (CCR6, CCR9, CXCR1, CXCR5, and XCR1) as valuable targets for modulating ACT to enhance cell trafficking and potentially improve cancer therapy outcomes.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"36"},"PeriodicalIF":3.3,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004763","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":"Association between TLR 2 (rs3804099), TLR4 (rs4986790), and TLR 9 (rs187084) polymorphism and leukemia risk: a systematic review and meta-analysis.","authors":"Rupesh Kumar, Anindita Dutta, Mayur Mausoom Phukan","doi":"10.1007/s12026-025-09592-y","DOIUrl":"10.1007/s12026-025-09592-y","url":null,"abstract":"<p><p>Toll-like receptors (TLRs) are crucial components of innate immunity. A specific form of genetic variation in TLR genes may increase the chance of developing leukemia. The present investigation conducted a comprehensive meta-analysis to examine the correlation between three TLR polymorphisms, namely TLR2 (rs3804099), TLR4 (rs4986790), and TLR9 (rs187084), within the leukemia risk group. An in-depth literature search was performed using Web of Science, PubMed, and Google Scholar to identify noteworthy research published in these scientific databases from 2012 to 2024. Research articles were evaluated according to rigorous inclusion criteria, and data was compiled for meta-analysis using Microsoft Excel (Ver. 2013), MedCalc (Ver. 19.3), and RevMan software (Ver. 5.3). Finally, 11 qualified studies were selected for the ongoing investigation, encompassing a combined total of 1315 leukemia cases and 1340 controls. Using a dominant genotype model, the meta-analysis found that the TLR2 (rs3804099) and TLR9 (rs187084) polymorphisms were strongly linked to higher risk of leukemia, with ORs of 2.042 (95% CI: 1.35-3.08, p = 0.001) and 1.38 (95% CI: 1.14-1.67, p = 0.001) respectively. Notably, the TLR4 (rs4986790) polymorphism did not exhibited any substantial correlation with the incidence of leukemia. The results indicate that variations in TLR2 and TLR9 genes could be considered a novel genetic biomarker for the leukemia development, highlighting their potential use in risk assessment and targeted therapies. This emphasizes the possibility of using these variations in evaluating risk and developing targeted remedies. However, greater research capacities are required to research into the fundamental mechanisms and authenticate these trends in other populations.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"35"},"PeriodicalIF":3.3,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004759","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":"Molecular characterization and bioinformatic analysis of SGU protein in Anopheles culicifacies as target for transmission blocking activity.","authors":"Hitesh Singh, Manisha Kirar, Mahima Yadav, Nisha Dahiya, Sangeeta Janjoter, Neelam Sehrawat","doi":"10.1007/s12026-024-09561-x","DOIUrl":"10.1007/s12026-024-09561-x","url":null,"abstract":"<p><p>In tropical countries, malaria transmission is the major health issue. To eradicate malaria, health communities depend on the control measure that affects economy and environment of the countries. To overcome these burdens, there is a great need to develop vaccine against malaria, but there is no vaccine to control malaria effectively. Transmission blocking vaccine (TBV) is the best alternative approach to control malaria, which inhibits the malaria transmission. Mosquito-based TBVs, blocks the transmission of Plasmodium developmental stages in mosquito. There are some potential candidate antigens for mosquito-based TBV, e.g., AgCPB1, AnAPN1, AgFREP1, etc. AcSGU is one of the most potential candidates for TBVs. AcSGU protein is glycol-anchored protein in Anopheles culicifacies which is highly expressed after blood feeding. In the present study acsgu gene was amplified from genomic DNA, sequenced (GenBank id: MN402758) and characterised. The sequence of acsgu (gene and protein) was analysed by different immuno-informatics tools to confirm its potentiality as a candidate antigen. The target protein was cloned, isolated and immunised for immunogenic response analysis. The acsgu gene is single exonic which encodes for AcSGU protein with single functional MBF2 domain. It is conserved in most of the Anopheles species. Bioinformatics analysis confirmed the stability and immunogenic nature of the protein. Protein-Protein interaction revealed effective interaction of AcSGU with Pf47 and TLR4 molecules. AcSGU protein was expressed in E. coli BL21 (DE3) by using expression vector pLATE51. The immunogenic response in AcSGU protein was remarkable in the rabbit. This study confirmed that AcSGU protein is the potential candidate for transmission blocking vaccine to generate anti-midgut immunity against plasmodium. It can be used as a candidate for the development of multistage targeting vaccines against malaria.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"34"},"PeriodicalIF":3.3,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983407","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":"The effects of bone marrow humoral components of B-cell acute lymphoblastic leukemia patients on natural killer cell suppression.","authors":"Ilhan Tahrali, Esra Yucel, Emine Turkkan, Ali Aycicek, Aysegul Unuvar, Suzan Cinar, Gunnur Deniz","doi":"10.1007/s12026-024-09577-3","DOIUrl":"10.1007/s12026-024-09577-3","url":null,"abstract":"<p><p>B-cell acute lymphoblastic leukemia (B-ALL) is the most common form of cancer diagnosed in children. While the majority of patients survive with conventional treatment, chemotherapeutic agents have adverse effects and the potential for relapse persists even after full recovery. Given their pivotal function in anti-cancer immunity, there has been a surge in research exploring the potential of natural killer (NK) cells in immunotherapy, which has emerged as a promising avenue for treating leukemia. Nevertheless, the efficacy of NK cell immunotherapy is less pronounced than expected, which suggests the external conditions that affect NK cell functions after the administration to patients with leukemia. In this study, the effects of humoral components in the bone marrow humoral components of B-ALL patients on healthy NK cells were investigated. Healthy peripheral blood mononuclear cells were cultured with and without bone marrow-derived plasma samples of B-ALL patients. The expression of PD-1 and IL-10 were found to be increased whereas the proliferative capacities of NK cells were found to be decreased at the presence of B-ALL plasma samples. Moreover, high IL-10 versus low IL-18 levels were detected in bone marrow plasma samples of B-ALL patients. These findings indicate that humoral components in the bone marrow of B-ALL patients exert a suppressive effect on NK cell functions.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"31"},"PeriodicalIF":3.3,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978266","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":"Baicalein attenuates ovalbumin-induced allergic rhinitis through the activation of nuclear receptor subfamily 4 group a member 1.","authors":"Ying Xu, Lili Xu, Xuli Jian, Qianqian Wang, Zhen Li, Hongzhou Ge","doi":"10.1007/s12026-024-09590-6","DOIUrl":"10.1007/s12026-024-09590-6","url":null,"abstract":"<p><p>Baicalein, one of the major active flavonoids found in Scutellaria baicalensis, has been revealed to exhibit potent anti-inflammatory properties in allergic airway inflammation. This study aimed to explore the role of baicalein and its relevant mechanism in the treatment of allergic rhinitis (AR). The bioinformatics tools were used to predict the targets of baicalein and AR-related genes. AR mice were induced by ovalbumin (OVA) and treated with lentivirus-encapsulated knockdown of nuclear receptor subfamily 4 group A member 1 (NR4A1) or protein arginine N-methyltransferase 1 (PRMT1) plasmids and baicalein. IL-4/IL-13-induced human nasal mucosal epithelial cells (HNEpC) were transfected with knockdown of NR4A1 or PRMT1 plasmids and baicalein treatment. Baicalein alleviated AR-like symptoms and reduced the levels of immunoglobulin E, histamine, and LTC4 in serum and IL-4, IL-25, and IL-33 concentrations in nasal lavage fluids of mice induced with OVA by increasing NR4A1 expression. NR4A1 blocked the NFκB/p65 pathway by mediating transcriptional repression of PRMT1. Knockdown of PRMT1 overturned the effects of NR4A1 knockdown on IL-4/IL-13-induced HNEpC and OVA-induced mice. Collectively, these findings provide evidence that baicalein activation of NR4A1 mediates transcriptional repression of PRMT1 and relieves AR in mice by blocking the NFκB/p65 pathway.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"32"},"PeriodicalIF":3.3,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978252","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":"Protective role of ABCC drug subfamily resistance transporters (ABCC1-7) in intestinal inflammation.","authors":"Gabriela Fonseca-Camarillo, Janette Furuzawa-Carballeda, Erika Miguel-Cruz, Rafel Barreto-Zuñiga, Braulio Martínez-Benítez, Jesus K Yamamoto-Furusho","doi":"10.1007/s12026-024-09583-5","DOIUrl":"10.1007/s12026-024-09583-5","url":null,"abstract":"<p><p>The ABCC subfamily contains thirteen members. Nine of these transporters are called multidrug resistance proteins (MRPs). The MRPs have been associated with developing ulcerative colitis (UC). This study aimed to evaluate the ABCC expression in UC patients and its role in a dextran sulfate sodium (DSS)-induced colitis mice model under 5-aminosalicylates or methylprednisolone treatment and compared with control without inflammation. DSS-induced colitis mice were treated with 5-aminosalicylates (50 mg/kg 24 h) or methylprednisolone (2 mg/kg 24 h). Human rectal biopsies were obtained from UC patients. The abcc-relative mRNA levels and protein expression were determined by RT-PCR and immunohistochemistry. abcc4, abcc5, and abcc6 mRNA levels were significantly increased in DSS-induced colitis compared to the other groups. The 5-aminosalicylate treatment dramatically increased the abcc2 and abcc3 mRNA levels vs. control. Methylprednisolone treatment increased abcc1 vs. DSS-induced colitis and colitis treated with 5-aminosalicylate. Immunohistochemical analysis revealed down-regulation of ABCC1/ABCC2/ABCC5/ABCC7 in mice colitis vs. control. Treatment with 5-aminosalicylate restored ABCC5 levels, while methylprednisolone restored ABCC2/ABCC5/ABCC7 in colitis mice at similar control levels. Relative mRNA levels of mrp1-5 were increased in active UC patients vs. control. ABCC2/ABCC4/ABCC7 were conspicuously expressed in the mucosa of 5-aminosalicylate and/or methylprednisolone-treated UC patients, while ABCC2/ABCC4/ABCC5/ABCC7 in submucosa, ABCC1/ABCC5/ABCC7 in muscular, and ABCC1/ABCC4/ABCC5/ABCC7 in serosa were expressed vs. controls. This is the first report about the differential up-regulation of the ABCC subfamily gene and protein expression in DSS-induced colitis under aminosalicylates or methylprednisolone treatment.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"33"},"PeriodicalIF":3.3,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978254","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":"The role of mitophagy-related genes in prognosis and immunotherapy of cutaneous melanoma: a comprehensive analysis based on single-cell RNA sequencing and machine learning.","authors":"Jun Tian, Lei Zhang, Kexin Shi, Li Yang","doi":"10.1007/s12026-025-09593-x","DOIUrl":"10.1007/s12026-025-09593-x","url":null,"abstract":"<p><p>Mitophagy, the selective degradation of mitochondria by autophagy, plays a crucial role in cancer progression and therapy response. This study aims to elucidate the role of mitophagy-related genes (MRGs) in cutaneous melanoma (CM) through single-cell RNA sequencing (scRNA-seq) and machine learning approaches, ultimately developing a predictive model for patient prognosis. The scRNA-seq data, bulk transcriptomic data, and clinical data of CM were obtained from publicly available databases. The single-sample gene set enrichment analysis (ssGSEA) and weighted gene co-expression network analysis (WGCNA) were used to identify gene modules associated with mitophagy phenotypes. A machine learning framework employing ten different algorithms was used to develop the prognostic model. Based on scRNA-seq data, we identified 16 distinct cell subpopulations in melanoma, and melanoma cells exhibited significantly higher mitophagy scores. The turquoise module identified via WGCNA showed the strongest correlation with mitophagy scores. A prognostic model incorporating seven genes was developed through machine learning algorithms, achieving an average C-index of 0.754 across training and validation cohorts. Functionally, low-risk patients were enriched in interferon-gamma response and inflammatory processes, whereas high-risk patients showed enrichment in glycolysis regulation and signaling pathways such as KRAS and Wnt/β-catenin. Notably, low-risk patients demonstrated enhanced immune infiltration and greater sensitivity to immunotherapy. RT-qPCR validated the expression level of 7 model genes in human melanoma cell lines and normal melanocyte cell lines. Our study provides a comprehensive understanding of MRGs in melanoma and presents a novel prognostic model. These findings enhance our understanding of the tumor microenvironment and may guide personalized treatment strategies for CM patients.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"30"},"PeriodicalIF":3.3,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970510","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":"Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.","authors":"Zakaria Kasmi, Milouda Chihi, Zahra Aadam, Hind Ouair, Asmaa Drissi Bourhanbour, Jalila El Bakkouri, Ibtihal Benhsaien, Ahmed Aziz Bousfiha, Fatima Ailal","doi":"10.1007/s12026-024-09581-7","DOIUrl":"10.1007/s12026-024-09581-7","url":null,"abstract":"<p><p>Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital. We identified 88 patients, 51 with IN and 37 with CoN. Fifty-seven percent were males, and 43% were females, ranging from 1 month to 19 years. The median age at onset was 8 months, and the median at diagnosis was 36 months. Consanguinity was observed in 57% of the cases, and a history of recurrent infections in the siblings was found in 27.3%. The most common infectious complications were ear, nose, and throat (ENT) infections, skin and soft tissue infections, and lung infections. Patients with CoN were classified into seven syndromes: 9 with severe congenital neutropenia, 11 with cyclic neutropenia, 6 with glycogen storage disease type 1b, 5 with poikiloderma with neutropenia, 3 with Griscelli syndrome, 2 with Hermansky-Pudlak syndrome type II, and 1 with Cohen syndrome. This study provides a comprehensive overview of CoN and IN in a pediatric cohort from Morocco, representing the country's most considerable single-center investigation of these conditions. Our findings highlight the significant burden of CoN, accounting for 5% of IEI in the Moroccan registry, a proportion higher than in some neighboring countries. The study emphasizes the early onset and severity of bacterial infections in CoN patients, underlining the critical need for timely and accurate diagnosis.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"29"},"PeriodicalIF":3.3,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948206","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}