Journal of Clinical Immunology最新文献

{"title":"Correction to: Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.","authors":"Kieran Walker, Anoop Mistry, Christopher M Watson, Fatima Nadat, Eleanor O'Callaghan, Matthew Care, Laura A Crinnion, Gururaj Arumugakani, David T Bonthron, Clive Carter, Gina M Doody, Sinisa Savic","doi":"10.1007/s10875-025-01889-9","DOIUrl":"10.1007/s10875-025-01889-9","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"101"},"PeriodicalIF":7.2,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12122568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144174110","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}

{"title":"From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.","authors":"Arnau Antolí, Gardenia Vargas-Parra, Angels Sierra-Fortuny, Jose Luis Gomez-Vazquez, Paula Rofes, Elisabet Munté, Julen Viana-Errasti, Raúl Marín-Montes, Adriana López-Doriga, Lidia Feliubadaló, Jesús Del Valle, Alexandre Pérez-González, Eva Poveda, Xavier Solanich, Conxi Lázaro","doi":"10.1007/s10875-025-01892-0","DOIUrl":"10.1007/s10875-025-01892-0","url":null,"abstract":"<p><p>TLR7, which encodes a key receptor for single-stranded RNA (ssRNA) virus of the innate immune system, was recently associated with X-linked immunodeficiency and COVID-19 susceptibility. This study investigates the association between TLR7 variants and susceptibility to severe COVID-19 in a multicentric Spanish cohort. The TLR7 gene was sequenced in a cohort of 365 COVID-19 patients, stratified into two groups: one comprising mild and asymptomatic patients, considered as controls (n = 87), and the other consisting of moderate to severely affected patients hospitalized due to COVID-19 pneumonia, considered as cases (n = 278). A total of 152 unique TLR7 variants were identified, of note, six rare variants were identified in 11 cases (3.96%), all of whom belonged to the case group. The functional impact of rare TLR7 variants was assessed using a luciferase reporter assay and revealed that N215S is a loss-of-function (LOF) variant, while D332G exhibits an hypomorphic behavior. Conversely, H90Y, V219I, A448V, and R902K maintained normal signaling. No skewed X-inactivation was observed in female carriers of N215S or D332G. In addition, the common variants Q11L (rs179008), c.4-151A>G (rs179009) and c.*881C>G (rs3853839) were associated with severe pneumonia, while c.4-151A>G (rs179009) was specifically linked to Intensive Care Unit (ICU) admission. These findings highlight the role of TLR7 in antiviral immune response and its association with severe COVID-19 in men. The luciferase assay proves to be a reliable tool for evaluating TLR7 signaling, effectively distinguishing between neutral, LOF, and gain-of-function (GOF) variants. Further research is needed to better understand TLR7 variants and its implications in immunodeficiency and immune dysregulation.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"100"},"PeriodicalIF":7.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150563","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}

{"title":"Mosaicism in Two Patients with COPA Syndrome.","authors":"Maud Tusseau, Yves Hatchuel, Cynthia Rames, Alix de Becdelievre, Alexandre Belot","doi":"10.1007/s10875-025-01883-1","DOIUrl":"https://doi.org/10.1007/s10875-025-01883-1","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"99"},"PeriodicalIF":7.2,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208683","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}

{"title":"Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV.","authors":"Weiying Zhang, Alan F Scott, David W Mohr, Roxann Ingersoll, Peter E Shoucair, Jay H Bream, Tricia L Nilles, Hao Zhang, Yue Chen, Robbie B Mailliard, Joseph B Margolick","doi":"10.1007/s10875-025-01886-y","DOIUrl":"10.1007/s10875-025-01886-y","url":null,"abstract":"<p><p>A man living with HIV was found to lack expression of CD16A on his natural killer (NK) cells and monocytes. Genetic analysis revealed compound heterozygous deletion of FCGR3A, the gene encoding CD16A. The case's NK cells showed: (a) no antibody-dependent cell-mediated cytotoxicity and very low spontaneous cytotoxicity; (b) an immature phenotype marked by high expression of CD94, CD2, NKG2A, and NKG2D, and low expression of KIR2DL2 and CD57; (c) no expression of KIR3DL1 and very low expression of FcRγ; and (d) normal cytokine production. The case's monocytes and DCs were similar phenotypically and functionally to those from the donors matched for HIV status, age, and percentage of NK cells in the peripheral blood. In contrast to previously reported people with CD16A deficiency, this man did not have a history of severe infections with herpes viruses, suggesting that other immune cells and/or immunoregulatory function of NK cells may compensate for deficiency of cytolytic NK cells.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"98"},"PeriodicalIF":7.2,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144136127","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}

{"title":"Prolonged Postoperative Wound Healing Due to Anti-IL-6 Autoantibody as a Phenocopy of Inborn Errors of Immunity.","authors":"Shunichi Adachi, Motoshi Sonoda, Masataka Ishimura, Mioko Matsuo, Shouichi Ohga","doi":"10.1007/s10875-025-01894-y","DOIUrl":"10.1007/s10875-025-01894-y","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"96"},"PeriodicalIF":7.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127767","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}

{"title":"Chronic Kidney Disease in Common Variable Immunodeficiency: a Multicenter Study.","authors":"Chiara De Renzis, Renato Finco Gambier, Antonietta Gigante, Carla Maria Deiana, Gianluca Lagnese, Lorenzo Gatti, Giulia Garzi, Giulia Costanzo, Chiara Pagnozzi, Stefania Nicola, Luisa Brussino, Giuseppe Spadaro, Marcello Rattazzi, Davide Firinu, Francesco Cinetto, Cinzia Milito","doi":"10.1007/s10875-025-01890-2","DOIUrl":"10.1007/s10875-025-01890-2","url":null,"abstract":"<p><strong>Purpose: </strong>There are few reports of renal involvement in Common Variable Immunodeficiencies (CVID) and, when present, is due to infections, inflammation, or treatments. The aim of this study was evaluating the prevalence of chronic kidney disease (CKD) and to identify CVID-related clinical, laboratory and therapeutic features inducing it.</p><p><strong>Methods: </strong>A multicenter observational retrospective study on 367 adult CVID patients from five Italian Referral Centers for Primary Immunodeficiency.</p><p><strong>Results: </strong>CKD was identified in 23 (6.27%) patients that were older (p < 0.001), had arterial hypertension (p < 0.001), diabetes (p = 0.002), dyslipidemia (p = 0.002), presented different ultrasound abnormalities (p < 0.001) and received predominantly intravenous immunoglobulins (IVIG) (p = 0.016). Regarding CVID infectious and non-infectious manifestations, CKD patients presented a higher frequency of COPD (p = 0.008). In the CKD group, the median absolute count of total lymphocytes (p = 0.015), the percentage of total B (p = 0.028) and transitional B cells (p = 0.008) were lower. By binomial logistic regression analysis adjusted for age, CKD patients tend to develop autoimmune cytopenia, had lower B cells percentage, increased Neutrophil-to-lymphocyte ratio and received more frequently trimethoprim-sulfamethoxazole antibiotic prophylaxis. By multivariate analysis, only autoimmune cytopenia was independently associated with CKD.</p><p><strong>Conclusion: </strong>The prevalence of CKD in CVID is due to aging, age-related comorbidities, disease-related immune dysregulation and inflammation. Our results suggest evaluating renal function in all CVID patients, and mostly in those with a higher \"inflammatory\" burden.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"97"},"PeriodicalIF":7.2,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127760","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}

{"title":"Correction to: Pre-Transplant Immune Dysregulation Predicts for Poor Outcome Following Allogeneic Haematopoietic Stem Cell Transplantation in Adolescents and Adults with Inborn Errors of Immunity (IEI).","authors":"Thomas A Fox, Valerie Massey, Charley Lever, Rachel Pearce, Arian Laurence, Sarah Grace, Filippo Oliviero, Sarita Workman, Andrew Symes, David M Lowe, Valeria Fiaccadori, Rachael Hough, Susan Tadros, Siobhan O Burns, Markus G Seidel, Ben Carpenter, Emma C Morris","doi":"10.1007/s10875-025-01893-z","DOIUrl":"10.1007/s10875-025-01893-z","url":null,"abstract":"","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"95"},"PeriodicalIF":7.2,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078255","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}

{"title":"Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.","authors":"Gabriela Assunção Goebel, Luciana Araújo Oliveira Cunha, Fernanda Gontijo Minafra, Jorge Andrade Pinto","doi":"10.1007/s10875-025-01887-x","DOIUrl":"10.1007/s10875-025-01887-x","url":null,"abstract":"<p><p>Severe combined immunodeficiency (SCID) is a heterogeneous genetic disease characterized by severe T-cell lymphopenia with a profound impairment of T- and B-cells' function and, in some types, also NK cells. Hematopoietic cell transplantation (HCT) is the only curative treatment currently available in Brazil. Late diagnosis and treatment are the main factors affecting the survival of these children. This study aims to describe the demographic, phenotypic, genotypic, and clinical characteristics of twenty SCID patients (including typical SCID, leaky-SCID, and Omenn Syndrome) followed at a Brazilian referral center and correlate these data with their clinical outcome. The children were analyzed into two groups: patients diagnosed early by newborn screening (NBS) or family history, n = 7, and patients with late diagnosis, by clinical presentation, n = 13. The 2-year overall survival (OS) of the late group was 29.2%, in contrast to the 2-year OS of the early diagnosis group of 71.4% (p = 0.053). However, despite early diagnosis in the first group, timely access to HCT was delayed, with a median of 11 months. This research reveals that survival depends not only on timely diagnosis but also on early definitive treatment. To improve SCID survival rates, developing countries need public policies that allow rapid access to curative treatment for these patients.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"94"},"PeriodicalIF":7.2,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12081553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078308","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}

{"title":"Deepening Understanding of the Clinical Features and Diagnostic Approaches to Anti-Interferon-Gamma Autoantibody Associated Adult-Onset Immunodeficiency in the Last 20 Years: A Case Report and Literature Review.","authors":"Liyan Zhao, Jindi Ma, Ying Sun, Xiaopeng Yu, Yingfeng Lu, Haijiang Qian, Ren Yan, Yimin Zhang","doi":"10.1007/s10875-025-01885-z","DOIUrl":"10.1007/s10875-025-01885-z","url":null,"abstract":"<p><p>Anti-interferon-gamma autoantibody (AIGA)-associated adult-onset immunodeficiency (AOID) is an emerging disease that can lead to serious opportunistic infections, which has a history of 20 years since it was first reported in 2004. It's a hard-detected AOID caused by AIGA. In recent years, there has been an increasing number of reports on the disease, but there is still a lack of consensus on the diagnosis and treatment. We here report a case of a 70-year-old Chinese male who had had AIGA in serum and suffered from recurrent pyothorax. Although his condition improved with antimicrobial therapy each time, his pyothorax frequently relapsed, requiring repeated hospitalizations. A literature review of AIGA-associated AOID was conducted. We searched PubMed, Web of Science, Embase, and the Chinese literature database for manuscripts concerning AIGA. Cases detected with AIGA and met our criteria were included. A total of 502 patients were retrospectively analyzed, with 256 (51.0%) males and 246 (49.0%) females. The majority of patients are from Southeast Asia (98.2%). Lymph node (83.7%) is the most commonly involved organ, followed by the lung (60.6%). Nontuberculous mycobacteria (NTM) was identified as the predominant pathogen reported in 77.49% of the patients. The clinical manifestations are diverse and non-specific for the disease often presenting with multi-organ involvement and multiple infections. Timely identification of patients with AIGA, appropriate diagnosis, and individualized treatment are critical; thus, we propose a reasonable diagnostic criterion and a structured diagnostic and treatment process based on our findings to provide clinicians with comprehensive information for clinical practice.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"93"},"PeriodicalIF":7.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12075263/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009754","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}

{"title":"Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.","authors":"Laura Zárate-Pinzón, Germán Mejía-Salgado, Carlos Cifuentes-González, Oscar Correa-Jiménez, Stefania Amaris, Alberto Alfaro-Murillo, Juanita Téllez-Zambrano, Angie Verbel, Paula Monje-Tobar, Alejandra de-la-Torre","doi":"10.1007/s10875-025-01880-4","DOIUrl":"10.1007/s10875-025-01880-4","url":null,"abstract":"<p><strong>Background: </strong>Although some reports indicate ocular involvement in Inborn Errors of Immunity (IEI) patients, the characteristics of this association remain unclear. Increased awareness can facilitate early diagnosis and prevention of visual complications.</p><p><strong>Objective: </strong>To determine the prevalence and characterize ophthalmological manifestations in patients with IEI.</p><p><strong>Methods: </strong>A systematic literature search was performed across Embase, PubMed, and Lilacs. Observational studies with at least 10 IEI patients exhibiting ophthalmological manifestations were reviewed. A meta-analysis using a random effects model, weighted proportion, and 95% confidence intervals were reported as appropriate.</p><p><strong>Results: </strong>Sixty-two articles out of the 6,884 studies were included. The pooled prevalence of ocular manifestations in IEI patients was 54% (95%CI = 39-69), with a mean age of 11.1 ± 7.8 years and male predominance. Regarding the type of IEI with ocular involvement, the most frequently affected group was the Combined immunodeficiencies with associated or syndromic features (82%, 95%CI = 66-91), followed by the diseases of immune dysregulation (73%, 95%CI = 27-95), auto-inflammatory disorders (48%, 95%CI = 10-88), and congenital defects of phagocytes (39%, 95%CI = 11-76). Europe had the highest prevalence of patients with ocular manifestations (68%, 95%CI = 32-90). The most common ocular manifestations observed in IEI patients were those affecting ocular mobility, followed by those that involved the anterior segment, posterior segment, eyelids, and adnexal structures.</p><p><strong>Conclusions: </strong>These results highlight a significant burden of ocular involvement in IEI patients, mainly during childhood and associated with amblyogenic factors. Therefore, ophthalmologists, pediatricians, and immunologists must be involved in early detection to prevent ocular complications and overall well-being.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"92"},"PeriodicalIF":7.2,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12075347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007750","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}