{"title":"Regulation of macrophage pyroptosis by SIRT1 during Pseudomonas aeruginosa-induced pneumonia","authors":"Haibo Ding , Xinzhu Xiao , Yuping Zhan , Yanqing Lin , Changsheng Xu , Yiming Zeng","doi":"10.1016/j.molimm.2025.07.005","DOIUrl":"10.1016/j.molimm.2025.07.005","url":null,"abstract":"<div><div><em>Pseudomonas aeruginosa</em> (PA), an opportunistic gram-negative bacterial pathogen, is the main cause of lung infections. Pulmonary infection induced by PA results in inflammatory lung injury characterized by macrophage pyroptosis. In our study, a mouse model of pulmonary infection was established by tracheal intubation with PA in vivo, and the MH-S macrophage line was stimulated with PA in vitro. HE staining was performed to observe changes in the lung tissue. The mechanism was further explored through various methods, including flow cytometry, LDH release assays, ELISA, real-time PCR, Western blotting (WB), and CCK8 assays. Additionally, the effect of MH-S cells on the proliferation of alveolar endothelial cells was observed by coculturing these two cell types. The results showed that PA-induced inflammatory injury in murine lung tissues increased the levels of inflammatory factors (IL-1β/6/12) and pyroptosis-related proteins (NLRP3, Caspase 1/11, and GSDMD-N) and promoted pulmonary macrophage pyroptosis. PA downregulated Sirt1 expression and increased p-NF-κB-p65 levels both in vitro and in vivo. Sirt1 activation or overexpression alleviated PA-induced lung tissue injury, inhibited macrophage pyroptosis, and decreased the expression of inflammatory factors and pyroptosis-related proteins. Sirt1 inhibition or knockdown critically strengthened the effect of PA on pulmonary macrophage pyroptosis. NF-κB inhibition suppressed the PA-induced increase in Sirt1-regulated pyroptosis in MH-S macrophages, decreased the levels of inflammatory factors and pyroptosis-related proteins, and weakened the inhibitory effect of MLE-12 cell proliferation on PA-infected MH-S cells. In conclusion, the Sirt1/NF-κB axis negatively regulates PA-induced inflammatory factor release and macrophage pyroptosis, promotes lung epithelial cell proliferation, and reduces inflammatory injury to the lung tissue.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 92-104"},"PeriodicalIF":3.2,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Leven PRO-CR mediates 5-HT and gut microbiota via TPH1 to improve slow-transit constipation","authors":"Fei Xia, Qibin He, Shenglin Wang, Mengchao He, Ping Fang, Yanqiu Yu","doi":"10.1016/j.molimm.2025.07.007","DOIUrl":"10.1016/j.molimm.2025.07.007","url":null,"abstract":"<div><div>Slow-transit constipation (STC) is a chronic disorder causing prolonged colonic transit and discomfort; this study explores the therapeutic potential of probiotics mixture (Leven PRO-CR) in modulating gut microbiota and enhancing intestinal motility. A loperamide-induced STC mouse model was established, and the effects of Leven PRO-CR treatment were evaluated by measuring defecation frequency, stool water content, and intestinal transit rate. Histopathological analyses, including Hematoxylin & Eosin (H&E) staining, immunohistochemistry (IHC), and TUNEL assay, were performed to assess colonic tissue integrity, interstitial cells of Cajal (ICCs) density, and apoptosis. The expression levels of serotonin (5-HT)-related markers (TPH1, 5-HT receptors, SERT) and enteric neural markers (NOS1, BDNF, TRPV1, GDNF) were analyzed using quantitative PCR (qPCR), Western blotting, and immunofluorescence staining. The gut microbiota composition was examined through 16S rDNA sequencing. Statistical analyses were conducted using GraphPad Prism, with significance set at P < 0.05. Leven PRO-CR significantly improved STC symptoms by reducing first defecation time, increasing stool frequency, fecal water content, and intestinal transit rate. We found that Leven PRO-CR restored colonic tissue integrity, enhanced ICC survival by upregulating c-Kit/SCF signaling, and reduced apoptosis. Leven PRO-CR upregulated TPH1 expression, increased 5-HT levels, and inhibited its degradation, thereby promoting intestinal motility. Leven PRO-CR also modulated NOS1, BDNF, TRPV1, and GDNF mRNA and protein expression, suggesting enhanced enteric nervous system function. 16S rDNA sequencing revealed increased microbial diversity and a restored balance of beneficial bacteria after Leven PRO-CR treatment, indicating the beneficial effects of Leven PRO-CR on balancing gut microbiota in STC. Overall, Leven PRO-CR alleviated slow-transit constipation potentially by enhancing 5-HT secretion, upregulating TPH1 channels, and restoring microbiota balance.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 81-91"},"PeriodicalIF":3.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144695435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Curcumin mitigates testicular ischemia-reperfusion injury by suppressing NLRP3-mediated pyroptosis","authors":"Zhi Hu , Jinrun Wang , Jinzhuo Ning , Fan Cheng","doi":"10.1016/j.molimm.2025.07.011","DOIUrl":"10.1016/j.molimm.2025.07.011","url":null,"abstract":"<div><h3>Background</h3><div>Testicular torsion results in damage by interrupting the blood supply. Nevertheless, the reestablishment of blood flow following testicular detorsion, a process known as testicular ischemia-reperfusion injury (IRI), often leads to further injury. Curcumin is a naturally occurring phenolic compound that has anti-inflammatory and antioxidant implications. It has been demonstrated to confer preventive implications in IRI between different organs. We propose ascertaining curcumin function in testicular IRI.</div></div><div><h3>Methods</h3><div>We created a mouse model to study testicular torsion/detorsion (T/D) and a germ cell model to study oxygen-glucose deprivation/reperfusion (OGD/R). The evaluation of testicular ischemia damage was conducted using histological staining. Testicular tissues were examined for the presence of reactive oxygen species (ROS) and pyroptosis-linked proteins employing western blot (WB), RT-qPCR, MDA, SOD assay kits, and immunohistochemistry analysis. Cell viability and cytotoxicity were measured via the Cell Counting Kit-8 (CCK-8) and LDH test kits. The amounts of inflammatory proteins were quantified employing ELISA, immunofluorescence, and immunoblotting methods.</div></div><div><h3>Results</h3><div>We observed that testicular IRI is involved in oxidative stress damage in cells, with an associated elevation in pyroptosis-linked proteins NLRP3 and caspase-1 (CASP-1) levels. Additionally, there is a rise in the inflammatory cytokines IL-1β and −18 levels. After treating with curcumin, we noted a significant inhibition of pyroptosis, particularly when the concentration was 20 μmol/L, where the inhibitory effect was most pronounced. Further investigation into the underlying mechanisms revealed that curcumin exerts its preventative implications against testicular IRI by targeting the NLRP3 pathway to suppress IRI-mediated pyroptosis.</div></div><div><h3>Conclusions</h3><div>Curcumin mitigates testicular IRI-induced pyroptosis by modulating the NLRP3 signaling pathway, thereby alleviating cellular and tissue damage.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 71-80"},"PeriodicalIF":3.2,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144695393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nayana de Oliveira Souza , Natalia Alves Cortelette , Mayara Paes Santos , Marcelo Dias-Baruffi , Daniela Amorim Melgaço Guimarães , Lorena Rocha Ayres , João Alexandre Trés Pancoto
{"title":"The impact of the role of cytokines on HIV infection in people living with HIV with and without comorbidities","authors":"Nayana de Oliveira Souza , Natalia Alves Cortelette , Mayara Paes Santos , Marcelo Dias-Baruffi , Daniela Amorim Melgaço Guimarães , Lorena Rocha Ayres , João Alexandre Trés Pancoto","doi":"10.1016/j.molimm.2025.07.008","DOIUrl":"10.1016/j.molimm.2025.07.008","url":null,"abstract":"<div><div>Infection with the human immunodeficiency virus (HIV) causes a deterioration of the immune system. Changes in cytokine levels are seen in HIV infection and contribute to the pathogenesis of the disease. This study evaluated cytokine levels and single nucleotide polymorphisms (SNP) of genes associated with HIV infection and the development of comorbidities. The dosage of cytokines [(tumor necrosis factor alpha (TNF-α), interferon gamma (IFN-γ) and interleukins (IL) 1, 6, 10 and 17)] were subjected to immunoenzymatic assays, and genotypes for TNF-α SNP −308 G/A, IFN-γ + 874 T/A, IL-1β −511 C/T, IL-6 −174 G/C and IL-10 −592 C/A by the polymerase chain reaction technique of the 200 enzymes used (CONT) and 200 people living with HIV (PLHIV). Relevant results were observed in the dosage of all as cytokines. There was an increase in the levels of TNF-α, IL-1β and IL-10 and a reduction in the levels of INF-γ, IL-6 and IL-17 in PLHIV compared to CONT. As the SNP demonstrated a predominance of the genotype of high TNF-α producer and low IFN-γ and IL-10 producers in the PLHIV group. Changes in the TNF-α, IFN-γ tests observed in the PLHIV group may be associated with the studied SNP, while the SNP IL-10 −592 C/A seems to indicate an association of this polymorphism with risk of HIV infection. Thus, investigations of the immunoregulatory mechanisms of HIV infection may be important in the establishment of new biomarkers for prognosis, in the discovery of new therapeutic targets, in the development of immunotherapies and in the results for curing the infection.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 63-70"},"PeriodicalIF":3.2,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144679001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mao Liu , Xiru Ling , Zhenboyang Tang , Chunyan Huang , Ping Wang , Jiqiang Wu , Yue He , Jie Chen
{"title":"The relationship between Interleukin 1 beta single nucleotide polymorphisms and systemic lupus erythematosus among the Chinese Han population","authors":"Mao Liu , Xiru Ling , Zhenboyang Tang , Chunyan Huang , Ping Wang , Jiqiang Wu , Yue He , Jie Chen","doi":"10.1016/j.molimm.2025.07.003","DOIUrl":"10.1016/j.molimm.2025.07.003","url":null,"abstract":"<div><h3>Objective</h3><div>Systemic lupus erythematosus (SLE) is a typical autoimmune disease whose etiology is related to genetic factors. This study is designed to evaluate the association between Single Nucleotide Polymorphisms (SNPs) of the Interleukin 1 beta (IL-1β) gene (rs16944, rs1143627, rs1143634) and SLE susceptibility and clinical characteristics in the Chinese Han population.</div></div><div><h3>Methods</h3><div>This case-control study recruited 155 SLE patients and 140 controls. DNA was extracted from the venous blood of all subjects and genotyped using PCR and mass spectrometry.</div></div><div><h3>Results</h3><div>Individuals with at least one mutant gene G (AG+GG genotype) at rs16944, at least one mutant gene A (AG+AA genotype) at rs1143627 and the AG Genotype at rs1143634 were associated with a lower risk of SLE compared to healthy controls(<em>P</em> = 0.009; <em>P</em> = 0.005; <em>P</em> = 0.016). The AG genotype at rs16944 increased the risk of anti-SSA(Ro) antibody positivity and thrombocytopenia (<em>P</em> = 0.033; <em>P</em> = 0.018), while the G allele decreased the risk of lupus nephritis (<em>P</em> = 0.040). For rs1143627, the A allele was linked with an increased risk of LA2 positivity for lupus anticoagulant (<em>P</em> = 0.041) and a lower risk of lupus nephritis (<em>P</em> = 0.044), and the AG genotype was associated with an increased risk of thrombocytopenia (<em>P</em> = 0.009). There was no correlation between rs1143634 and clinical features of SLE.</div></div><div><h3>Conclusion</h3><div>In conclusion, IL-1β gene polymorphisms are related to SLE susceptibility and clinical features in the Chinese population.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 53-62"},"PeriodicalIF":3.2,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lithium: Emerging frontiers in metallopharmaceutical therapeutics","authors":"Shuai Tong, Jingxuan Xiao, Xin Zhang, Jingwei Ma","doi":"10.1016/j.molimm.2025.07.001","DOIUrl":"10.1016/j.molimm.2025.07.001","url":null,"abstract":"<div><div>The successful application of lithium salts in treating bipolar disorder marks a milestone in metallotherapeutics. Ongoing research has revitalized the clinical application of this \"classic drug\" lithium carbonate. Since the late 19th century, lithium salts have been found effective in improving bipolar disorder and established as a standard treatment. Recent studies highlight lithium's potential in neuroprotection, metabolic regulation, and cancer therapy due to its unique physicochemical properties. Its clinical applications continue to expand, demonstrating significant value in fields such as metalloimmunotherapy. This review summarizes the mechanisms of lithium and its growing role in treating diverse diseases.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 39-52"},"PeriodicalIF":3.2,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ruiqian Li , Hongyi Wu , Fengming Ran , Yixuan He , Hong Sun , Wenjun Peng , Qilin Wang , Jun Li
{"title":"GDF15 activates the PI3K/AKT pathway to mediate macrophage M2 polarization to promote prostate cancer resistance to docetaxel","authors":"Ruiqian Li , Hongyi Wu , Fengming Ran , Yixuan He , Hong Sun , Wenjun Peng , Qilin Wang , Jun Li","doi":"10.1016/j.molimm.2025.07.006","DOIUrl":"10.1016/j.molimm.2025.07.006","url":null,"abstract":"<div><div>Drug resistance in cancer treatment is a major challenge, and macrophage polarization plays a key role in the development of prostate cancer (PCa). Growth differentiation factor 15 (GDF15) is highly expressed in most cancers and is induced during anticancer treatment. The aim of this study was to investigate the regulatory mechanism of GDF15 in macrophage polarization and resistance to docetaxel (DTX) in PCa patients. We collected clinical samples from PCa patients to evaluate the expression level of GDF15 and its correlation with M2-type macrophage polarization. In this study, CCK-8, RT<img>qPCR, flow cytometry and western blotting were used to investigate the mechanisms by which GDF15 regulates macrophage M2 polarization and PCa chemotherapy resistance. The results showed that GDF15 was significantly upregulated in PCa samples and was closely related to the level of M2 macrophage polarization. Further experiments revealed that M2 macrophages synthesize GDF15, which is involved in the regulation of DTX resistance in PCa cells. Following knockdown of GDF15 expression in M2-type macrophages, we observed that the resistance of PCa cells to DTX was significantly attenuated. This regulatory mechanism was achieved mainly through the inhibition of the PI3K/AKT signaling pathway, preventing the M2 polarization of macrophages. In conclusion, the upregulation of GDF15 in M2 macrophages can activate the PI3K/AKT signaling pathway, enhancing the DTX resistance of PCa cells. These findings provide new insights and potential targets for treatment strategies against PCa chemotherapy resistance.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 27-38"},"PeriodicalIF":3.2,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jiajia Zhang , Kaili Zhang , Shaohua Sun , Dafu Deng , Ping He , Hanrong Lv , Sen Jiang , Wanglong Zheng , Nanhua Chen , Jinguo Gu , Jianfa Bai , Jianzhong Zhu
{"title":"Preparation of African swine fever virus (ASFV) p30 monoclonal antibodies and identification of novel antigenic epitopes","authors":"Jiajia Zhang , Kaili Zhang , Shaohua Sun , Dafu Deng , Ping He , Hanrong Lv , Sen Jiang , Wanglong Zheng , Nanhua Chen , Jinguo Gu , Jianfa Bai , Jianzhong Zhu","doi":"10.1016/j.molimm.2025.07.009","DOIUrl":"10.1016/j.molimm.2025.07.009","url":null,"abstract":"<div><div>African swine fever (ASF) is a highly infectious disease caused by African swine fever virus (ASFV), with a mortality rate of up to 100 % for highly virulent strains. The ASFV p30 protein is encoded by the early transcriptional gene CP204L. As one of the structural proteins of ASFV, p30 is an ideal diagnostic antigen for ASF. Here, we first generated three monoclonal antibodies (mAbs) specific for p30 from immunized BALB/c mice via cell fusion, which were successfully applied in ELISA, Western blotting, and immunofluorescence assay. Second, two novel antigenic epitopes, <sup>169</sup>TIYGTPLKE<sup>177</sup> and <sup>111</sup>ETNECTSSFET<sup>121</sup> of p30 were identified using Western blotting with the three p30 mAbs. The two epitopes identified were highly conserved across genotypes I and/or II ASFVs. Third, an indirect ELISA based on epitope peptides of p30 was established to effectively detect antibodies during ASFV infection.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 18-26"},"PeriodicalIF":3.2,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144632165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"MSC-EVs alleviate sepsis-induced acute lung injury through inhibiting NET-triggered damage to adherens junctions of endothelial cells","authors":"Yuwen Shao , Dan Wu , Changhong Miao , Hao Zhang","doi":"10.1016/j.molimm.2025.07.004","DOIUrl":"10.1016/j.molimm.2025.07.004","url":null,"abstract":"<div><div>Neutrophil extracellular traps (NETs) play a crucial role in the progression of sepsis-induced acute lung injury (SI-ALI). Extracellular vesicles derived from mesenchymal stem cells (MSC-EVs) are considered to have potential therapeutic effects on SI-ALI. Nevertheless, a comprehensive understanding of the precise mechanism is currently lacking. This study intends to illustrate the therapeutic mechanisms of MSC-EVs against NET-mediated SI-ALI. In vivo and in vitro experiments demonstrate that NETs reduced the expression of VE-cadherin through calpain 1/2 activation, thereby impairing endothelial barrier function and exacerbating the pathogenesis of SI-ALI. MSC-EVs were found to alleviate SI-ALI by reducing the formation of NETs. Additionally, MSC-EVs inhibited NET generation by shifting NETosis to apoptosis through the ROS/AKT pathway. This study delineates the pathogenic role of NET-induced endothelial injury in SI-ALI and promotes MSC-EVs as a novel therapeutic approach for this disease.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 6-17"},"PeriodicalIF":3.2,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144614656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"CFH nonsense mutation-mediated pregnancy-associated atypical hemolytic uremic syndrome: Case report","authors":"Chengjun Hu , Ping Zhang , Qi Xu , Rujuan Qin , Weifeng Chen , Zhen Shi , Ping Chen , Maozhong Xu","doi":"10.1016/j.molimm.2025.07.002","DOIUrl":"10.1016/j.molimm.2025.07.002","url":null,"abstract":"<div><div>Pregnancy-associated hemolytic uremic syndrome (P-aHUS) is characterized by microvascular hemolytic anemia, thrombocytopenia, and acute organ damage, particularly acute kidney injury, occurring during pregnancy or in the postpartum period. This rare disease has been associated with mutations in genes that regulate the complement system in most reported cases. This article introduces a 38-year-old maternal, who gave birth again after 13 years. Approximately four days post-cesarean section, she developed severe anemia, thrombocytopenia, renal impairment, and abnormal liver function, prompting urgent symptomatic treatment by the doctor. Subsequent detections revealed decreased complement C3 levels, a negative result for the ADAMTS13 inhibitory antibody, and a negative stool culture for bacterial fungi. The diagnosis of P-aHUS was confirmed, and the condition was successfully managed with complement blockade therapy using Eculizumab. Genetic sequencing of the complement factor H (<em>CFH</em>) gene revealed the c.3643 C > T mutation (p.Arg1215*), indicating the presence of rare <em>CFH</em> gene variants that may contribute to the patient's condition. These findings elucidate the clinical manifestations and treatment responses associated with the rare disease P-aHUS in relation to specific gene mutations. We underscore the significance of genetic testing for accurate diagnosis and personalized treatment, offering new insights and evidence for the future clinical management and research of similar cases.</div></div>","PeriodicalId":18938,"journal":{"name":"Molecular immunology","volume":"185 ","pages":"Pages 1-5"},"PeriodicalIF":3.2,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}