Clinical Immunology Communications最新文献

CRISPR/Cas9-mediated RELA and RELC knockout in human regulatory T cells abrogates FOXP3 expression and suppressive function CRISPR/Cas9 介导的人调节性 T 细胞中 RELA 和 RELC 基因敲除可抑制 FOXP3 的表达和抑制功能

Clinical Immunology Communications Pub Date : 2024-10-18 DOI: 10.1016/j.clicom.2024.10.002

Yohei Sato , Yamato Hanawa , Akihito Tsubota

{"title":"CRISPR/Cas9-mediated RELA and RELC knockout in human regulatory T cells abrogates FOXP3 expression and suppressive function","authors":"Yohei Sato , Yamato Hanawa , Akihito Tsubota","doi":"10.1016/j.clicom.2024.10.002","DOIUrl":"10.1016/j.clicom.2024.10.002","url":null,"abstract":"<div><div>Mutations in NF-κB-related molecules result in combined immunodeficiency characterized by recurrent infection. In this study, we aimed to investigate the association between mutations in NF-κB family members, RELA, RELB, and RELC, and regulatory T cell (Treg) function in humans. <em>RELA, RELB</em>, and <em>RELC</em> were knocked out using CRISPR/Cas9-mediated homologous recombination in CD4<sup>+</sup>/CD8<sup>+</sup> T cells and Tregs isolated from healthy donors. The <em>RELA, RELB</em>, and <em>RELC</em> knockouts did not alter the phenotype or cytokine production profile of CD4<sup>+</sup>/CD8<sup>+</sup> T cells or Jurkat cells. Similar to that observed in knockout mice, <em>RELA</em> or <em>RELC</em> knockout in MT-2 cells and freshly isolated Tregs reduced FOXP3 expression and the immune suppressive function of Tregs. Additionally, PD-L1 expression in effector T cells and Tregs decreased considerably following RELC knockdown. These findings demonstrated that the deletion of RELA or RELC resulted in the loss of Treg-like phenotype and function owing to the downregulation of FOXP3 expression.</div></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142536085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Deficiency of interleukin-1 receptor antagonist: An updated review of the pathogenesis, clinical characteristics, and treatments 白细胞介素-1 受体拮抗剂缺乏症：发病机制、临床特征和治疗方法的最新回顾

Clinical Immunology Communications Pub Date : 2024-09-07 DOI: 10.1016/j.clicom.2024.09.001

Spencer Fang , Joshua Pillai , Baharullah Mahin

{"title":"Deficiency of interleukin-1 receptor antagonist: An updated review of the pathogenesis, clinical characteristics, and treatments","authors":"Spencer Fang , Joshua Pillai , Baharullah Mahin","doi":"10.1016/j.clicom.2024.09.001","DOIUrl":"10.1016/j.clicom.2024.09.001","url":null,"abstract":"<div><p>Deficiency of Interleukin-1 receptor antagonist (DIRA) is a rare autosomal recessive autoinflammatory disease first reported in 2009. To date, 33 patients have been previously characterized and reported in literature. To the best of our knowledge, there have been no recent studies that have broadly evaluated recent advances in understanding of this challenging and life-threatening condition. Herein, we comprehensively reviewed the etiology and cytogenetic abnormalities of DIRA. We then investigated the current diagnostics used for identifying the variants of this disease. Furthermore, we report the demographics and characteristics broadly found in the current patient sample. Lastly, we discuss the treatments (antibiotics, corticosteroids, etc.) and the primary biologics (anakinra, canakinumab, adalimumab, and rilonacept) used in patients, along with current information on their clinical safety and efficacy. Overall, although further investigations are required for this disease, this review may be informative to clinicians treating and managing patients presenting with DIRA.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000131/pdfft?md5=efd31efbf265a26f98baec737ce483c3&pid=1-s2.0-S2772613424000131-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142168609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

First report of Mycobacterium chimaera infection in a patient with chronic granulomatous disease 首次报告一名慢性肉芽肿病患者感染了奇美拉分枝杆菌

Clinical Immunology Communications Pub Date : 2024-06-23 DOI: 10.1016/j.clicom.2024.06.001

Nancy E Aguilar Gómez , Uriel Pérez Blanco , Patricia Saltigeral Simental , Sara Espinosa Padilla , Jacinta Bustamante , Lizbeth Blancas Galicia

引用次数: 0

Chronic disseminated histoplasmosis in a patient on fingolimod therapy: A case report and review of literature 芬戈莫德治疗患者的慢性播散性组织胞浆菌病：病例报告和文献综述

Clinical Immunology Communications Pub Date : 2024-06-21 DOI: 10.1016/j.clicom.2024.06.002

Aditya Sanjeevi , Brandon L Clark , Alfredo Aguirre , Basil George Verghese

引用次数: 0

Post COVID-19 multisystem inflammatory syndrome in adults (MIS-A): Underappreciated in international health? A Case Series COVID-19 后成人多系统炎症综合征（MIS-A）：在国际卫生领域未得到充分重视？病例系列

Clinical Immunology Communications Pub Date : 2024-05-01 DOI: 10.1016/j.clicom.2024.04.003

Marvyn T. Koning , Anouk Haine , Jesse Fens , Edske ter Bals , M. Cloos-van Balen , A. Faiz Karim

{"title":"Post COVID-19 multisystem inflammatory syndrome in adults (MIS-A): Underappreciated in international health? A Case Series","authors":"Marvyn T. Koning , Anouk Haine , Jesse Fens , Edske ter Bals , M. Cloos-van Balen , A. Faiz Karim","doi":"10.1016/j.clicom.2024.04.003","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.04.003","url":null,"abstract":"<div><p>Multisystem Inflammatory Syndrome in Adults (MIS-A) is a rare complication after COVID-19 that mainly occurs in young adults. Patients typically present with unremitting fever, rash, conjunctivitis, neurological signs, shock, gastrointestinal symptoms and thrombocytopenia. Reported cases are scarce. Here we describe three new cases.</p><p>It is unclear to what extent MIS-A has a genetic basis, or whether MIS-A patients can be safely vaccinated after a case of MIS was reported after vaccination (termed MIS-V). We describe a monozygotic twin who was vaccinated without complications, suggesting no strict genetic basis for MIS-V. Furthermore, we report only the second case of MIS-A-related coronary aneurysm, which fully resolved upon regular treatment.</p><p>With the majority of young adults living in low resources settings, we suggest more focus on clinical parameters to support a MIS-A diagnosis. We report the first two patients of North-African descent. Currently, MIS-A may be an underappreciated complication of COVID-19 due to the lack of reports in non-Caucasian populations.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S277261342400009X/pdfft?md5=a1f4936a8315215cd8ec32b0eac35346&pid=1-s2.0-S277261342400009X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140823249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia 利妥昔单抗治疗和预防威斯科特-阿尔德里奇综合征和X连锁血小板减少症患者自身免疫的疗效

Clinical Immunology Communications Pub Date : 2024-04-20 DOI: 10.1016/j.clicom.2024.04.002

Saori Katayama, Tomohiro Nakano, Tasuku Suzuki, Masahiro Irie, Hidetaka Niizuma, Atsuo Kikuchi, Yoji Sasahara

{"title":"Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia","authors":"Saori Katayama, Tomohiro Nakano, Tasuku Suzuki, Masahiro Irie, Hidetaka Niizuma, Atsuo Kikuchi, Yoji Sasahara","doi":"10.1016/j.clicom.2024.04.002","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.04.002","url":null,"abstract":"<div><p>Immunological dysfunction in multiple lineages of hematopoietic cells and mixed chimerism after allogeneic hematopoietic stem cell transplantation (HSCT) are associated with an increased risk of autoimmunity in patients with Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT). Here, we report the efficacy of rituximab against autoimmunity in five patients with WAS and XLT. One patient with systemic arthritis and vasculitis, and two patients with immune thrombocytopenia were successfully treated with rituximab before initiating reduced-intensity conditioning. Rituximab was also used in combination with conditioning to prevent autoimmunity by depleting the recipient B cells in the other two patients with XLT. None of the patients developed autoimmunity without delay in donor B cell reconstitution, even though two patients had stable mixed chimerism after HSCT. These results suggest that aberrant B cell-intrinsic mechanisms are a central cause of autoimmunity, and rituximab is an effective therapeutic option for autoimmunity in patients with WAS and XLT.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000088/pdfft?md5=0e10a31d2d2652dc8d7440e727722666&pid=1-s2.0-S2772613424000088-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140644850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

First reported use of immune checkpoint inhibitor for treatment of cancer in a patient with acquired hemophilia A 首次报道获得性血友病 A 患者使用免疫检查点抑制剂治疗癌症

Clinical Immunology Communications Pub Date : 2024-04-16 DOI: 10.1016/j.clicom.2024.04.001

Mariam A Mostafa , Sheref Elseidy , Reham Ali Metwally , Amir Mahmoud , Ali Abdelhay , Farhan S. Imran

{"title":"First reported use of immune checkpoint inhibitor for treatment of cancer in a patient with acquired hemophilia A","authors":"Mariam A Mostafa , Sheref Elseidy , Reham Ali Metwally , Amir Mahmoud , Ali Abdelhay , Farhan S. Imran","doi":"10.1016/j.clicom.2024.04.001","DOIUrl":"10.1016/j.clicom.2024.04.001","url":null,"abstract":"<div><p>Acquired hemophilia A is a rare but serious bleeding disorder that occurs because of neutralizing autoantibodies, also called inhibitors that target coagulation factor VIII (FVIII). Although it is a rare disorder, it has high morbidity and mortality with serious, sometimes life-threatening bleeding, often occurring. Immunotherapy with immune checkpoint inhibitors (ICI) is now a key pillar in treatment of malignancies. They have improved outcomes in malignancy but given their mechanism of action, which stimulates the immune response, autoimmune-associated adverse effects are a concern. Several case reports have identified a risk of AHA occurrence in patients treated with ICI. There are no case reports documenting the use or outcomes of ICI in patients with pre-existing AHA. Here we present the first ever case of a patient with AHA in complete remission treated successfully with ICI for lung cancer without relapse in AHA.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000076/pdfft?md5=7a969c587bdd6b21a30b1d5cc76f5f5e&pid=1-s2.0-S2772613424000076-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140762660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Early recognition of the APECED rash can accelerate the diagnosis of APECED 早期识别 APECED 皮疹可加速 APECED 的诊断

Clinical Immunology Communications Pub Date : 2024-03-06 DOI: 10.1016/j.clicom.2024.03.001

Elise M.N. Ferré , Chyi-Chia R. Lee , Michail S. Lionakis

{"title":"Early recognition of the APECED rash can accelerate the diagnosis of APECED","authors":"Elise M.N. Ferré , Chyi-Chia R. Lee , Michail S. Lionakis","doi":"10.1016/j.clicom.2024.03.001","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.03.001","url":null,"abstract":"<div><p>Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (<em>AIRE</em>) gene. Although typically characterized by the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, we have recently reported that the clinical spectrum of the syndrome is far broader that previously described and that incorporation of an adjunct triad of APECED rash, autoimmune enteritis-associated intestinal dysfunction, and enamel hypoplasia in the classic triad manifestations could lead to earlier diagnosis. Among the adjunct triad manifestations, APECED rash occurs in 66 % of American APECED patients by age 3, most often developing in the first year of life. Here, we describe the clinical and histological features of protracted APECED rash manifesting together with recurrent mucocutaneous candidiasis as the first two disease components of APECED in a 10-month-old girl.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000064/pdfft?md5=0a30287078275916ae14bcd735f32528&pid=1-s2.0-S2772613424000064-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140069119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation 一例继发于 COVID-19 的线粒体脑肌病病例，患儿患有新型 TRNT1 突变的 SIFD 综合征

Clinical Immunology Communications Pub Date : 2024-02-24 DOI: 10.1016/j.clicom.2024.02.003

Amer Khojah , Lauren Gunderman , Ameera Bukhari , Aisha Mirza , Madeline Schutt , Aisha Ahmed

{"title":"Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation","authors":"Amer Khojah , Lauren Gunderman , Ameera Bukhari , Aisha Mirza , Madeline Schutt , Aisha Ahmed","doi":"10.1016/j.clicom.2024.02.003","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.02.003","url":null,"abstract":"<div><p>Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene. We present the case of a 13-month-old boy with developmental delay, microcytic anemia, and recurrent febrile illnesses. Immunological workup revealed B cell lymphopenia. Whole exome sequencing identified two novel heterozygous mutations in the TRNT1 gene (Thr49Fs and Ile122Thr). Our patient had a milder phenotype than previously reported cases of sideroblastic anemia. However, he developed left ventricular dilated cardiomyopathy at the age of 2 years. At the age of 5 years, COVID-19 infection resulted in mitochondrial encephalomyopathy and respiratory failure. Subsequent immunology evaluation revealed low IgG levels, prompting the initiation of immunoglobulin replacement therapy. This case highlights the importance of genetic testing in multisystem disorders and the variable clinical course in SIFD patients. Additionally, it emphasizes the unique susceptibility to COVID-19 due to immunodeficiency and mitochondrial defects.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000040/pdfft?md5=b95db347be3534412ee33edfd539b671&pid=1-s2.0-S2772613424000040-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139993379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Increased percentage of HLA-DR T cells in untreated juvenile dermatomyositis 未经治疗的幼年皮肌炎患者中 HLA-DR T 细胞比例增加

Clinical Immunology Communications Pub Date : 2024-02-22 DOI: 10.1016/j.clicom.2024.02.002

Amer Khojah , Madeline Schutt , Gabrielle Morgan , Ameera Bukhari , Nicolas Bensen , Aaruni Khanolkar , Lauren M. Pachman

{"title":"Increased percentage of HLA-DR T cells in untreated juvenile dermatomyositis","authors":"Amer Khojah , Madeline Schutt , Gabrielle Morgan , Ameera Bukhari , Nicolas Bensen , Aaruni Khanolkar , Lauren M. Pachman","doi":"10.1016/j.clicom.2024.02.002","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.02.002","url":null,"abstract":"<div><p>This study investigates HLA-DR expression on activated T cells and serum neopterin levels in Juvenile Dermatomyositis (JDM) children pre- and post-treatment. Sixty-nine JDM children (less than 18 years) were included. Elevated HLA-DR+ <em>T</em> cells (>7 %) were observed in 19 % of untreated cases. Post-treatment, mean HLA-DR+ <em>T</em> cells decreased from 5.1 to 2.9 (<em>P</em> < 0.001), and serum neopterin levels declined from 19.3 to 9.1 nmol/L (<em>P</em> < 0.0001). A positive correlation between serum neopterin and HLA-DR T cell percentage was observed (<em>r</em> = 0.39, <em>P</em> = 0.01). Intravenous steroid treatment exhibited a 47.4 % improvement in HLA-DR+ <em>T</em> cells and a 50.5 % reduction in serum neopterin levels, in contrast to 14.8 % and 34.1 % in the oral steroid group. In conclusion, treatment, particularly with IV steroids, significantly improved HLA-DR+ <em>T</em> cells percentage and neopterin levels. A correlation between HLA-DR+ <em>T</em> cells percentage and serum neopterin was noted in untreated JDM patients.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000052/pdfft?md5=c452f7a7248afcb618c034100a4de811&pid=1-s2.0-S2772613424000052-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139993378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0