Clinical Immunology Communications最新文献

{"title":"Deficiency of interleukin-1 receptor antagonist: An updated review of the pathogenesis, clinical characteristics, and treatments","authors":"Spencer Fang ,&nbsp;Joshua Pillai ,&nbsp;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":"6 ","pages":"Pages 9-14"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","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}

{"title":"First report of Mycobacterium chimaera infection in a patient with chronic granulomatous disease","authors":"Nancy E Aguilar Gómez ,&nbsp;Uriel Pérez Blanco ,&nbsp;Patricia Saltigeral Simental ,&nbsp;Sara Espinosa Padilla ,&nbsp;Jacinta Bustamante ,&nbsp;Lizbeth Blancas Galicia","doi":"10.1016/j.clicom.2024.06.001","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.06.001","url":null,"abstract":"<div><p>Chronic granulomatous disease (CGD) is an inborn error of immunity. NADPH oxidase is an enzyme complex that produces various reactive oxygen species, such as superoxide anions and hydrogen peroxide. Mycobacterial infections in CGD are commonly observed in countries with a high prevalence of these microorganisms, such as those receiving the BCG vaccination at birth or having a high prevalence of tuberculosis. Non-tuberculous mycobacteria (NTM) infections are rare in CGD. The patient also presented with hemophagocytic lymphohistiocytosis, which resolved with gammaglobulin and cyclosporine. Herein, we describe the first case of <em>M. chimaera</em> infection in a female patient with autosomal recessive CGD caused by a pathogenic variant in <em>CYBA</em>.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":"6 ","pages":"Pages 5-8"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S277261342400012X/pdfft?md5=19c3dbec20ac96039288c28cf0222b45&pid=1-s2.0-S277261342400012X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141480453","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}

{"title":"Corrigendum to “Beneficial immune-regulatory effects of novel strains of Aureobasidium pullulansAFO-202 and N-163 produced beta glucans in Sprague Dawley rats” [Clinical Immunology Communications 1 (2021) 29–34]","authors":"Nobunao Ikewaki ,&nbsp;Kadalraja Raghavan ,&nbsp;Vidyasagar Devaprasad Dedeepiya ,&nbsp;Suryaprakash Vaddi ,&nbsp;Masaru Iwasaki ,&nbsp;Rajappa Senthilkumar ,&nbsp;Senthilkumar Preethy ,&nbsp;Samuel JK Abraham","doi":"10.1016/j.clicom.2024.10.001","DOIUrl":"10.1016/j.clicom.2024.10.001","url":null,"abstract":"","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":"6 ","pages":"Pages 31-32"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143147534","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}

{"title":"Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation","authors":"Amer Khojah ,&nbsp;Lauren Gunderman ,&nbsp;Ameera Bukhari ,&nbsp;Aisha Mirza ,&nbsp;Madeline Schutt ,&nbsp;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":"5 ","pages":"Pages 26-29"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","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}

{"title":"Somatic variant profiling of a thymoma in Good syndrome","authors":"Kae Takagi ,&nbsp;Yui Namikawa ,&nbsp;Masayuki Nagasawa ,&nbsp;Masahiro Mae ,&nbsp;Yoshihiko Watanabe ,&nbsp;Kohsuke Imai ,&nbsp;Hirokazu Kanegane ,&nbsp;Tomohiro Morio ,&nbsp;Masatoshi Takagi","doi":"10.1016/j.clicom.2024.02.004","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.02.004","url":null,"abstract":"<div><p>Good syndrome (GS) is a combined immunodeficiency that is associated with thymomas. The cause of the reduction in B-cells in patients with GS may be multifactorial and may include dysregulated T-cell responses. It has been proposed that tumorigenesis in a normal thymus alters thymic epithelial cell function, which leads to attenuated elimination of T-cells autoreactive to B-cells. Although the comprehensive genetic analysis of thymoma has been performed and reported in many articles, the comprehensive genetic analysis specified for GS-related thymoma has not been reported. Herein, we report comprehensive genetic analysis of a thymoma taken from a patient with GS. Oncogenesis-associated genes that may contribute to thymoma development were detected. Additionally, alteration of <em>VCAM1</em>, which is required in the interaction between T-cells and thymic epithelial cells, was observed. Aberrantly expressed VCAM1 in thymic epithelial cells may decrease the efficacy of negative of selection autoreactive T-cells and contribute to autoimmunity to B-cells.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":"5 ","pages":"Pages 12-19"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000039/pdfft?md5=cb5d7cc0913d4adf0ba1ae4f12b0b913&pid=1-s2.0-S2772613424000039-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139936671","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}

{"title":"Anti-Saccharomyces cerevisiae (ASCA) in patients with severe obesity undergoing bariatric surgery: 12-month follow-up.","authors":"Emerita Quintina de Andrade Moura ,&nbsp;Bruno Fonseca Nunes ,&nbsp;Letícia de Oliveira Souza Bratti ,&nbsp;Fabíola Branco Filippin Monteiro","doi":"10.1016/j.clicom.2024.02.001","DOIUrl":"https://doi.org/10.1016/j.clicom.2024.02.001","url":null,"abstract":"<div><p>Severe obesity is linked to a low-grade inflammatory process due to enlarged adipose tissue, resulting in elevated pro-inflammatory cytokines. Bariatric surgery induces anatomical changes, causing intestinal inflammation marked by anti-Saccharomyces cerevisiae (ASCA) antibodies. This study aimed to assess ASCA IgG/IgA levels preoperatively and 12 months post-surgery, correlating them with systemic inflammation markers (IL-6, CRP, MCP-1). Participants (BMI &gt; 35 kg/m²) were recruited in South Brazil. Severe obesity individuals showed elevated IL-6 (<em>p</em> = 0.002), CRP (<em>p</em>&lt;0.0001), and MCP-1 (<em>p</em>&lt;0.0001) compared to lean controls. ASCA IgA was significantly higher in severe obesity (<em>p</em> = 0.0019). Post-surgery, ASCA IgG/IgA significantly decreased (<em>p</em> = 0.0046 and <em>p</em>&lt;0.0001), along with IL-6, MCP-1, and CRP, confirming weight loss and reduced inflammation. Hypertrophic adipose tissue, producing pro-inflammatory cytokines, associates with increased intestinal inflammation. Bariatric surgery-induced anatomical changes contribute to long-term weight loss and reduced systemic and intestinal inflammation.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":"5 ","pages":"Pages 7-11"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000027/pdfft?md5=c057dcb1c1af28dc7e6c2a63f5eb5bcd&pid=1-s2.0-S2772613424000027-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139725789","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}

{"title":"Efficacy of rituximab for the treatment and prevention of autoimmunity in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia","authors":"Saori Katayama,&nbsp;Tomohiro Nakano,&nbsp;Tasuku Suzuki,&nbsp;Masahiro Irie,&nbsp;Hidetaka Niizuma,&nbsp;Atsuo Kikuchi,&nbsp;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":"5 ","pages":"Pages 34-40"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","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}

{"title":"Evaluating length of immune response to SARS-CoV2 vaccine: A cohort review of spike protein antibody titer after vaccination","authors":"Zein Kattih ,&nbsp;Jonathan Moore ,&nbsp;Dimitre G. Stefanov ,&nbsp;Priyanka Makkar ,&nbsp;Viera Lakticova","doi":"10.1016/j.clicom.2024.01.001","DOIUrl":"10.1016/j.clicom.2024.01.001","url":null,"abstract":"<div><h3>Background</h3><p>The SARS-CoV2 pandemic required rapid development and expedited evaluation of vaccine efficacy. Initial evidence suggested waning immune response to SARS-CoV2 vaccination steadily over the first six months. This study evaluated duration of immunity in vaccinated patients at a single tertiary center in New York City during the pandemic.</p></div><div><h3>Methods</h3><p>We conducted a retrospective review of adult vaccinated patients admitted over a period of 3 months during the SARS-CoV2-Omicron variant and evaluated their immune response using the spike protein antibody titer. A total of 2476 patients were screened, and 1875 patients were included in the study. Secondary analysis of a cohort of patients with COVID-19 disease was also performed.</p></div><div><h3>Results</h3><p>Spike protein antibody was positive in 99 % of patients. Most patients received two doses of the Pfizer (42 %) or the Moderna (27 %) vaccines. There was a negative correlation between months since vaccination and spike protein antibody titer (Spearman's rank correlation –0.094, <em>p</em> &lt;0.0001). Subgroup analysis of those who had received at least two doses of a vaccine series revealed similar negative correlations for both Pfizer (Spearman's rank correlation –0.14, <em>p</em> &lt;0.0001) and Moderna vaccines (Spearman's rank correlation –0.11, <em>p</em> = 0.0043). Secondary analysis of patients admitted with a diagnosis of COVID-19 infection did not demonstrate any statistically significant difference in titer results over time.</p></div><div><h3>Conclusions</h3><p>Our study of patients admitted to a tertiary care center across a diverse patient population demonstrated that patients who were vaccinated against SARS-COV2 had a robust response in their spike protein antibody titer which was maintained well beyond six months after vaccination.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":"5 ","pages":"Pages 1-6"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000015/pdfft?md5=f4633bf721f316ced2394d5c29235569&pid=1-s2.0-S2772613424000015-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139633410","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}

{"title":"Early recognition of the APECED rash can accelerate the diagnosis of APECED","authors":"Elise M.N. Ferré ,&nbsp;Chyi-Chia R. Lee ,&nbsp;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":"5 ","pages":"Pages 30-33"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","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}

{"title":"Post COVID-19 multisystem inflammatory syndrome in adults (MIS-A): Underappreciated in international health? A Case Series","authors":"Marvyn T. Koning ,&nbsp;Anouk Haine ,&nbsp;Jesse Fens ,&nbsp;Edske ter Bals ,&nbsp;M. Cloos-van Balen ,&nbsp;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":"5 ","pages":"Pages 45-48"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","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}