Immunologic Research最新文献

{"title":"Utility of simultaneous quantification of TREC/KREC in patients with common variable immunodeficiency phenotype: an observational study from North India.","authors":"Prabal Barman, Anit Kaur, Sanchi Chawla, Archan Sil, Manpreet Dhaliwal, Amit Rawat, Surjit Singh, Ankur Kumar Jindal","doi":"10.1007/s12026-025-09615-8","DOIUrl":"10.1007/s12026-025-09615-8","url":null,"abstract":"<p><p>Because of its heterogeneity, common variable immunodeficiency (CVID), the commonest symptomatic inborn error of immunity, is difficult to classify. Limited data suggest T-cell receptor excision circles (TREC) and kappa-deleting re-combination excision circles (KREC) may be useful to better classify and prognosticate CVID and CVID phenotype. Thirty-four patients with CVID/CVID phenotype and 30 healthy controls were included in this cross-sectional observational study. Simultaneous quantification of TREC/KREC was performed using multiplex real-time polymerase-chain reaction with TaqMan probes. The levels of TREC/KRECs were analyzed for any association with clinical features, immunological investigations, and molecular studies. Median values of KREC and TREC copy numbers in patients with CVID/CVID phenotype were 64.5 and 170 copies/50 ng reaction, respectively, whereas the median values in controls were 79.2 and 190.1 copies/50 ng reaction respectively. We classified the patients into 4 groups based on copy numbers of TREC/KRECs: (A)TREC + /KREC + ; (B) TREC + /KREC-; (C) TREC-/KREC + ; (D)TREC-/KREC- [\" + \" and \" - \" denotes TREC/KREC levels above and below median value respectively]. Patients in Group B had higher risk of developing bronchiectasis. There was no significant difference vis-à-vis failure to thrive, infections, autoimmunity and malignancy, and levels of immunoglobulins, CD19⁺ B cells, and CD4:CD8 ratio amongst the 4 groups. Monogenic defects (n = 10/34) were more likely when age of onset was <math><mo>≤</mo></math> 4 years (p = 0.02), irrespective of TREC/KREC copy numbers. Classification of CVID/CVID phenotype based on TREC/KREC levels may not be feasible; however, a sub-group with low KREC/normal TREC levels may be predisposed to develop bronchiectasis. Patients with younger age of onset (< 4 years) were more likely to have monogenic defects.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"63"},"PeriodicalIF":3.3,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648417","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":"Immunoenhancing of the anti-cancer therapy and anti-oxidative stress by co-administration of granulocyte-colony stimulating factor-mobilized stem cells or cells derived from bone marrow and/or spleen plus vaccination with chemotherapeutic cyclophosphamide.","authors":"Soha Gomaa, Mohamed Nassef, Ghada Tabl, Shaimaa El Gabry","doi":"10.1007/s12026-025-09610-z","DOIUrl":"10.1007/s12026-025-09610-z","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The combination of immunotherapy and chemotherapy, referred to as chemo-immunotherapy, represents a promising regimen for developing new cancer treatments that target the local tumor microenvironment and target tumors in their early stages. However, this approach carries potential risks, including myelo- and immunosuppression, as well as the emergence of chemo-resistant tumor cells. The purpose of this study was to investigate how well mobilizing hematopoietic stem cells (HSCs) work when used alongside chemotherapy and immunotherapy to enhance and modulate the immune response, thereby overcoming immunosuppression and eliminating distant cancer cells. Ehrlich ascetic carcinoma (EAC) tumor-bearing mice were intraperitoneal (i.p.) preconditioned with CTX (4 mg/mouse). EAC-bearing mice that were preconditioned with CTX were intravenous (i.v.) administered with adoptive transferred naive mice-derived bone marrow cells (nBMCs) at 5 × 10&lt;sup&gt;6&lt;/sup&gt; through lateral tail vein (nBMCs group), adoptive transferred tumor-bearing mice-derived bone marrow cells (tBMCs) at 5 × 10&lt;sup&gt;6&lt;/sup&gt; cell/mouse (tBMCs group), a combination of adoptive transferred naïve mice-derived bone marrow cells (nBMCs) and naïve mice-derived splenocytes (nSPs) at 5 × 10&lt;sup&gt;6&lt;/sup&gt; (nBMCs/nSPs group), a combination of adoptive transferred tumor-bearing mice-derived bone marrow cells (tBMCs) and tumor-bearing mice derived-splenocytes (tSPs) at 5 × 10&lt;sup&gt;6&lt;/sup&gt; cell/mouse (tBMCs/tSPs group), or G-CSF administrated subcutaneously (s.c.) at 5 µg/mouse (G-CSF group). Subsequently, all mice groups were vaccinated with tumor lysate at a dosage of 100 µg/mouse. Treating EAC tumor-bearing mice with G-CSF, adoptive transferred nBMCs, adoptive transferred tBMCs, adoptive transferred nBMCs/nSPs, adoptive transferred tBMCs/tSPs, resulted in a significantly enhanced anti-tumor effect that was evidenced by increased anti-proliferative activity and growth inhibition against EAC tumor cells, increased necrosis and apoptosis rates among EAC tumor cells, restricted tumor growth in EAC tumor-bearing mice, and reduced levels of carcinoembryonic antigen (CEA) tumor marker. Furthermore, there was an improvement in serum levels of antioxidant enzyme superoxide dismutase (SOD) and malondialdehyde (MDA) in EAC tumor-bearing mice receiving G-CSF, adoptive transferred tBMCs, adoptive transferred nBMCs/nSPs, and adoptive transferred tBMCs/tSPs. Notably, this treatment regimen ameliorates liver and kidney damage associated with CTX administration in EA tumor-bearing mice. The integration of G-CSF-mobilized HSCs, adoptive transferred nBMCs, adoptive transferred tBMCs, adoptive transferred nBMCs/nSPs combination, and adoptive transferred tBMCs/tSPs combination may yield powerful anti-cancer therapy, thereby facilitating more effective anti-tumor immunotherapy strategies when align with anti-tumor responses. This research may propose a novel therapeutic approach that combines chemotherapy and immunotherapy","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"62"},"PeriodicalIF":3.3,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel loss of function mutation in the HAVCR2 gene in a patient diagnosed with Hodgkin's lymphoma.","authors":"Serife Erdem, Ebru Yilmaz, Alper Ozcan, Ahmed Nazim Canatan, Atil Bisgin, Muhammet Ensar Dogan, Musa Karakukcu, Ekrem Unal, Ahmet Eken","doi":"10.1007/s12026-025-09618-5","DOIUrl":"https://doi.org/10.1007/s12026-025-09618-5","url":null,"abstract":"","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"61"},"PeriodicalIF":3.3,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624369","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":"Systemic barrier dysfunction in type 2 inflammation diseases: perspective in the skin, airways, and gastrointestinal tract.","authors":"Juan Meng, Hao Xiao, Feng Xu, Xueke She, Chuntao Liu, Giorgio Walter Canonica","doi":"10.1007/s12026-025-09606-9","DOIUrl":"10.1007/s12026-025-09606-9","url":null,"abstract":"<p><p>The epithelial barrier in different organs is the first line of defense against environmental insults and allergens, with type 2 immunity serving as a protective function. Genetic factors, and biological and chemical insults from the surrounding environment altered regulate epithelial homeostasis through disruption of epithelial tight junction proteins or dilated intercellular spaces. Recent studies suggest that epithelial barrier dysfunction contributes to pathologic alteration in diseases with type 2 immune dysregulation including (but not limited to) atopic dermatitis, prurigo nodularis, asthma, chronic rhinosinusitis with nasal polyps, and eosinophilic esophagitis. In this review, we summarized current understanding of dysfunction of barrier and its interaction with type 2 inflammation across different organs, and discussed the role of epithelial barrier disruption in the pathogenesis of type 2 inflammation. In addition, recent progresses of emerging barrier restorative therapies are reviewed.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"60"},"PeriodicalIF":3.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering autoimmune susceptibility: a meta-analysis of PTPN22 gene variants.","authors":"Sheena Mariam Thomas, Ramakrishnan Veerabathiran","doi":"10.1007/s12026-025-09614-9","DOIUrl":"10.1007/s12026-025-09614-9","url":null,"abstract":"<p><p>Autoimmune disorders are intricate conditions where the immune system directs its attack towards the body's tissues. The goal is to perform a thorough meta-analysis focusing on the genetic and epigenetic aspects of autoimmune disorders, specifically examining the role of the PTPN22 gene, particularly the rs2476601 variation, in influencing susceptibility to autoimmune diseases. The study followed PRISMA 2020 guidelines and PROSPERO registration and conducted a comprehensive meta-analysis to explore the association between PTPN22 gene variations and autoimmune disorders. Case-control studies presenting genotype information were included, and quantitative data analysis was performed using MetaGenyo software. The meta-analysis included 43 studies with 20,669 controls and 9,397 cases of autoimmune diseases, focusing on the PTPN22 gene rs2476601 polymorphism. Significant associations were observed between the PTPN22 polymorphisms across multiple genetic models, including allelic, dominant, and recessive models. However, no link was found between the over-dominant model. The obtained p-values were < 0.01 for the allele model (C vs T; OR: 0.63, 95% CI: 0.48-0.81, I² = 92%), 0.03 for the dominant model (CC + CT vs. TT; OR: 0.47, 95% CI: 0.24-0.95, I² = 87%), and < 0.01 for the recessive model (TT vs. CT + CC; OR: 0.61, 95% CI: 0.47-0.79, I² = 89%). However, the over-dominant model (CT vs. CC + TT; OR: 1.68, 95% CI: 1.32-2.15, I² = 86%) did not show a significant p-value (> 0.05). This meta-analysis emphasizes the significant impact of PTPN22 gene variations on autoimmune diseases, suggesting its potential as a biomarker for assessing risk and guiding targeted interventions.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"59"},"PeriodicalIF":3.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604749","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":"Echinocystic acid ameliorates ischemic acute kidney injury in neonatal rats by attenuating ferroptosis via the Nrf2/GPX4 pathway.","authors":"Xiaoping Dang, Qiong Zhang, Xun Jiang, Xiaojian Hu","doi":"10.1007/s12026-025-09613-w","DOIUrl":"10.1007/s12026-025-09613-w","url":null,"abstract":"<p><p>Acute kidney injury (AKI) is the most common complication in neonates with hypoxic-ischemic encephalopathy (HIE), significantly contributing to both morbidity and mortality, and targeting key pathological processes, such as inflammation, ferroptosis and apoptosis, could be an effective approach to improving survival outcomes in these patients. In this context, echinocystic acid (EA), a pentacyclic triterpene, has shown promising anti-inflammatory, antioxidant, and anti-apoptotic effects in various disease models, suggesting its potential as a therapeutic agent for AKI in HIE. To evaluate the therapeutic potential and underlying mechanisms of EA in ameliorating ischemia/reperfusion (IR)-induced AKI in neonatal rats. Seven-day-old neonatal rat pups were subjected to an IR injury model to induce AKI and treated with EA via intraperitoneal injection. The effects of EA on renal injury were assessed using western blotting, terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL), immunofluorescence, reverse transcription-quantitative polymerase chain reaction (RT-qPCR), enzyme-linked immunosorbent assay (ELISA), and hematoxylin and eosin (H&E) staining. Treatment with EA significantly reduced IR-induced renal pathology and injury scores, as well as serum levels of blood urea nitrogen (BUN) and creatinine (Cr). In addition, EA diminished the release of pro-inflammatory cytokines and reduced the levels of F4/80, a macrophage marker, in the IR-treated pups. EA also attenuated ferroptosis, as evidenced by decreased levels of iron (Fe²⁺), reactive oxygen species (ROS), myeloperoxidase (MPO), and malondialdehyde (MDA), while simultaneously increasing the activity of antioxidant enzymes such as catalase (CAT), glutathione peroxidase (GPx), superoxide dismutase (SOD), and glutathione (GSH). Furthermore, EA reduced apoptosis, as demonstrated by lower levels of cleaved caspase 3 and cleaved poly(ADP-ribose) polymerase (PARP). Mechanistically, EA activated the Nrf2/GPX4 pathway, and inhibition of Nrf2 with ML385 reversed EA's beneficial effects on ferroptosis, inflammation, and renal injury. EA may relieve ischemic AKI in neonatal rats by modulating inflammation, ferroptosis and apoptosis, through the activation of the Nrf2/GPX4 pathway, indicating that it could be a promising therapeutic agent for AKI in neonates.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"58"},"PeriodicalIF":3.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive analysis of scRNA-Seq and RNA-Seq unveils B cell immune suppression in the AAV-loaded brain.","authors":"Shunyu Wu, Lu Xue, Xiang Li, Yaoxuan Wang, Yuting Zhu, Yuanbo Luo, Jiayu Sun, Tingting Jin, Wenying Shu, Zhaoyan Wang","doi":"10.1007/s12026-025-09609-6","DOIUrl":"10.1007/s12026-025-09609-6","url":null,"abstract":"<p><p>The use of AAV vectors for in vivo gene therapy has demonstrated the potential to permanently correct genetic diseases by delivering functional gene copies to the nuclei of affected tissues. AAV vectors, as tools for in vivo gene delivery, are particularly appealing and have shown safety and long-term efficacy in numerous organ-targeted experiments. Nevertheless, employing AAV vectors for gene therapy in the brain faces a notable hurdle in the shape of immune responses, chiefly instigated by the brain's resident immune cells, microglia. Additionally, lower levels of AAV vector-neutralizing antibodies have been detected in the cerebrospinal fluid compared to the circulatory system. This research, leveraging transcriptomic and single-cell RNA sequencing (scRNA-seq) data in conjunction with Mendelian randomization analysis, has identified the potential role of the XBP1 protein in mediating B-cell immunosuppression in the brain via the MDK-NCL ligand-receptor pair and associated genes. Furthermore, it paves the way for further investigation into the regulatory factors and pathways within the immune modulation network, as well as their prospective beneficial implications in immunotherapeutic treatments. By employing various innovative approaches, the study seeks to recreate the immune environment generated by AAV in the brain and preliminarily explore the immune suppression mechanisms induced by AAV vectors in the brain.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"57"},"PeriodicalIF":3.3,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11882665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concurrent infections in children with Kawasaki disease: lessons learned over 26 years.","authors":"Rakesh Kumar Pilania, Suprit Basu, Archan Sil, Sanjib Mondal, Abarna Thangaraj, Gayathri Cv, Manpreet Dhaliwal, Saniya Sharma, Ankur Kumar Jindal, Pandiarajan Vignesh, Sanjay Verma, Archana Angrup, Sanjeev H Naganur, Manphool Singhal, Amit Rawat, Deepti Suri, Surjit Singh","doi":"10.1007/s12026-025-09607-8","DOIUrl":"10.1007/s12026-025-09607-8","url":null,"abstract":"<p><p>Etiology of Kawasaki disease (KD) remains an enigma despite more than 50 years of extensive research. There is evidence that concurrent infections may play a role in the pathogenesis of KD. The present study reports various infections identified in a large cohort of patients with KD in Northwest India. We reviewed case records of patients with KD from January 1994 to February 2020. Patients with KD identified to have concurrent infection at presentation were analyzed in detail. Of 878 cases of KD during this period, 88 (60 boys, 28 girls; 64 incomplete KD, 24 complete KD) had evidence of concurrent infection. Infective manifestations included superficial and deep-seated abscesses (27.45%), pneumonia (28.4%), gastrointestinal manifestations (29.5%), urinary tract infection (4.5%), and septic arthritis (2.3%). Infectious agents were confirmed in 67/88 patients (76.13%) - these included bacteria (n = 51), viruses (n = 13), fungi (n = 2), and protozoa (n = 1). Among bacteria, infections with Staphylococcus sp. and Streptococcus sp. were the commonest (19/88 and 14/88 patients, respectively). Eighty-one children were treated with intravenous immunoglobulin (IVIg, 2 g/kg) and aspirin. Coronary artery abnormalities (CAAs) were seen in 11/88 patients (12.5%) during the acute phase - these normalized at 6 weeks of follow-up in all patients. To conclude, concurrent infections were seen in 10% of patients with KD at our center. If the clinical presentation suggests KD, one should not exclude the diagnosis even if there is evidence of an accompanying infection. Although 12.5% of patients with infection-associated KD had CAAs, none had persistent CAAs at 6 weeks of follow-up.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"56"},"PeriodicalIF":3.3,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500759","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":"Hepatitis C associated mixed cryoglobulinemia glomerulonephritis in the setting of undetectable viral load: successful treatment with hydroxychloroquine and review of the literature.","authors":"Faris Shweikeh, Yaritza Torres, Khadeja Khan, Mohamad Mouchli, Inderprit Singh","doi":"10.1007/s12026-025-09608-7","DOIUrl":"10.1007/s12026-025-09608-7","url":null,"abstract":"<p><p>There are an estimated 58 million cases of Hepatitis C (HCV) worldwide. Approximately 38-76% of individuals can develop extrahepatic manifestations such as mixed cryoglobulinemia (MC). Importantly, the appearance of symptoms due to MC is linked by detectable HCV RNA. A 38-year-old male with remote history of HCV infection diagnosed 8 years prior presented to the emergency department with subacute renal failure with proteinuria, hematuria, and WBC/RBC casts. Biopsy confirmed acute proliferative, non-crescentic, inflammatory glomerulonephritis. He also had new onset cryoglobulinemia. His HCV RNA was low-grade and liver function tests were all within the normal range. A liver biopsy showed signs of chronic hepatitis with mildly active portal fibrosis. The MC was cleared with steroids and a re-measured HCV RNA quantitative was negative. Seven months later, he was readmitted with glomerulonephritis and elevated MC. However, the patient's HCV viral load was undetectable. The patient underwent 6 rounds of plasmapheresis and 6 doses of Rituximab were given with suppression of cryoglobulin to nil. A month later, the MC levels rose again, while the viral load remained undetectable with the possibility of spontaneous remission. After initiation of maintenance hydroxychloroquine, his GFR improved to normal over the next 2 years. Multiple theories have been suggested for the phenomenon including presence of residual virus and lymphoproliferation effects. Hydroxychloroquine could be a successful option, though future studies should corroborate our outcome.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"55"},"PeriodicalIF":3.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of atypical infantile de novo antiphospholipid syndrome presenting with neonatal ischemic stroke without any triggering risk factors as a \"second hit\" and review of the literature.","authors":"Doruk Bor, Mustafa Vakur Bor","doi":"10.1007/s12026-025-09605-w","DOIUrl":"10.1007/s12026-025-09605-w","url":null,"abstract":"<p><p>Infantile antiphospholipid syndrome (APS) is a rare condition arising from either transplacental transfer of antiphospholipid antibodies (aPL) from the mother or de novo antibody production in the newborn. We present a unique case of cerebral artery thrombosis with persistently elevated anti-cardiolipin and anti-β2-glycoprotein-I antibodies, despite the absence of maternal aPL, suggesting primary de novo aPL synthesis. While the prevailing \"second-hit\" hypothesis suggests that additional thrombotic risk factors are required to trigger APS in infants, our case exhibited no prenatal, maternal, or thrombophilic risk factors. A literature review of 20 reported cases further confirmed that ours was the only case without additional thrombotic triggers among the 18 cases with complete data, challenging the necessity of a \"second hit\" in neonatal APS. Notably, aPL levels normalized over time without recurrence, raising questions about the need for long-term anticoagulation in select cases, including ours. These findings suggest a potential transient form of infantile APS and highlight the importance of sequential aPL testing to guide treatment. Further research is required to elucidate the mechanisms underlying de novo aPL synthesis and its clinical implications.</p>","PeriodicalId":13389,"journal":{"name":"Immunologic Research","volume":"73 1","pages":"53"},"PeriodicalIF":3.3,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11839866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}