Sevim Busra Korkmaz, Mehmet Ali Karaselek, Selma Erol Aytekin, Huseyin Tokgoz, Ismail Reisli, Sukru Guner, Sevgi Keles
{"title":"Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience","authors":"Sevim Busra Korkmaz, Mehmet Ali Karaselek, Selma Erol Aytekin, Huseyin Tokgoz, Ismail Reisli, Sukru Guner, Sevgi Keles","doi":"10.1111/iji.12624","DOIUrl":"10.1111/iji.12624","url":null,"abstract":"<p>Severe combined immunodeficiency (SCID) is an inborn errors of immunity (IEI) disorder characterized by impairment in the development and function of lymphocytes and could be fatal if not treated with hematopoietic stem cell transplant in the first 2 years of life. There are various diagnostic criteria for SCID among different primary immunodeficiency societies. We retrospectively evaluated clinical and laboratory findings of 59 patients followed up with the diagnosis of SCID at our clinic over the past 20 years in order to develop an algorithm that would help diagnosis of SCID for the countries where a high ratio of consanguineous marriage is present because these countries have not launched TREC assay in their newborn screening programs. The mean age at diagnosis was 5.80 ± 4.90 months, and the delay was 3.29 ± 3.99 months. The most common complaint and physical examination findings were cough (29.05%), eczematous rash (63%) and organomegaly (61%). ADA (17%), Artemis (14%), RAG1/2 (15%), MHC Class II (12%) and IL-2R (12%) deficiencies were the most common genetic defects. Lymphopenia (87.5%) was the most frequent abnormal laboratory finding and below 3000/mm<sup>3</sup> in 95% of the patients. The CD3<sup>+</sup> T cell count was 300/mm<sup>3</sup> and below in 83% of the patients. As a result, a combination of low lymphocyte count and CD3 lymphopenia for SCID diagnosis would be more reliable for countries with high rate of consanguineous marriage. Physicians should consider diagnosis of SCID in a patient presenting with severe infections and lymphocyte counts below 3000/mm<sup>3</sup> under 2 years of age.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"177-184"},"PeriodicalIF":2.2,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9856220","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}
Rajaa Lahmar, Elyes Chabchoub, Ramzi Zemni, Mzabi Anis, Neirouz Ghannouchi, Foued Ben Hadj Slama
{"title":"Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease","authors":"Rajaa Lahmar, Elyes Chabchoub, Ramzi Zemni, Mzabi Anis, Neirouz Ghannouchi, Foued Ben Hadj Slama","doi":"10.1111/iji.12623","DOIUrl":"10.1111/iji.12623","url":null,"abstract":"<p>Behçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently, the dysregulation of interleukin-21 receptor (IL-21R) has been incriminated in different autoimmune and auto-inflammatory diseases, such as systemic lupus erythematous, rheumatoid arthritis, and type 1 diabetes. Herein, we aimed to investigate the association of two <i>Il-21R</i> gene polymorphisms with BD. <i>IL-21R</i> rs2214537 and <i>IL-21R</i> rs2285452 genotypings were investigated in a cohort of 110 adult patients with BD and 116 age and gender unmatched healthy controls. Genotyping was performed by mutagenically separated polymerase chain reaction with newly designed primers. <i>IL-21R</i> rs2285452 genotypes and alleles distribution were statistically different between patients with BD and controls. GA and AA genotypes carrying the minor A allele were more frequent in patients with BD than in healthy controls (37.3% and 11.8% vs. 23.3% and 3.4%, respectively). The minor A allele was associated with an increased BD risk (odds ratios = 2.42, 95% confidence interval = 1.214.87, <i>p</i> = .005). IL-21R rs2214537 GG genotype was found to be associated with susceptibility to BD in the recessive model (GG vs. CC + CG; <i>p</i> = .046, OR = 1.91, 95% CI = 1.003.650. <i>IL-21R</i> rs2285452 and <i>IL-21R</i> rs2214537 were not in linkage disequilibrium (<i>D</i>' = 0.42). The AG haplotype was more frequently observed in patients with BD than in controls (0.247 vs. 0.056, <i>p</i> = .0001). This study for the first time reports the association of <i>IL-21R</i> rs2285452 and <i>IL-21R</i> rs2214537 with BD. Functional studies are required to elucidate the exact role of these genetic variants.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"185-193"},"PeriodicalIF":2.2,"publicationDate":"2023-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9861619","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":"Genetic landscape of human platelet antigen variants in the Indian population analysed from 1029 whole genomes","authors":"Mercy Rophina, Rahul C. Bhoyar, Mohamed Imran, Vigneshwar Senthivel, Mohit Kumar Divakar, Anushree Mishra, Aastha Vatsyayan, Bani Jolly, Sridhar Sivasubbu, Vinod Scaria","doi":"10.1111/iji.12622","DOIUrl":"10.1111/iji.12622","url":null,"abstract":"<p>Genetic variants in human platelet antigens (HPAs) considered allo- or auto antigens are associated with various disorders, including neonatal alloimmune thrombocytopenia, platelet transfusion refractoriness and post-transfusion purpura. Although global differences in genotype frequencies were observed, the distributions of HPA variants in the Indian population are largely unknown. This study aims to explore the landscape of HPA variants in India to provide a basis for risk assessment and management of related complications. Population-specific frequencies of genetic variants associated with the 35 classes of HPAs (HPA-1 to HPA-35) were estimated by systematically analysing genomic variations of 1029 healthy Indian individuals as well as from global population genome datasets. Allele frequencies of the most clinically relevant HPA systems in the Indian population were found as follows, HPA-1a – 0.884, HPA-1b – 0.117, HPA-2a – 0.941, HPA-2b – 0.059, HPA-3a – 0.653, HPA-3b – 0.347, HPA-4a – 0.999, HPA-4b – 0.0010, HPA-5a – 0.923, HPA-5b – 0.077, HPA-6a – 0.998, HPA-6b – 0.002, HPA-15a – 0.582 and HPA-15b – 0.418. This study provides the first comprehensive analysis of HPA allele and genotype frequencies using large scale representative whole genome sequencing data of the Indian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"134-143"},"PeriodicalIF":2.2,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9491296","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}
Steven G. E. Marsh, for the WHO Nomenclature Committee for Factors of the HLA System
{"title":"Nomenclature for factors of the HLA system, update January, February and March 2023","authors":"Steven G. E. Marsh, for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12621","DOIUrl":"10.1111/iji.12621","url":null,"abstract":"HLA allele Cell identification Accession number Submitting author A*01:01:01:111 NGS447D5, NGS447D4 OP598190, OP598191 Dr.Meenaskshi Singh, NaviMumbai, India A*01:428 HG00050653 OP830367 Histogenetics, Ossining, NY, USA A*01:429 HG00050662 OP921046 Histogenetics, Ossining, NY, USA A*01:430 HG00050801 OQ267716 Histogenetics, Ossining, NY, USA A*01:431 22031276 OQ513876 Dr. Robert Bray, Atlanta, GA, USA A*02:01:01:243 GR-EVA-53448 OQ357854 Mrs. Diamanto Kouniaki, Athens, Greece A*02:01:01:244 202218040 OQ354660 Dr. Amalia Tejeda Velarde, Salamanca, Spain A*02:01:212 HG00050669 OP966826 Histogenetics, Ossining, NY, USA A*02:03:12 HG00050657 OP830371 Histogenetics, Ossining, NY, USA A*02:06:32 HG00050658 OP830372 Histogenetics, Ossining, NY, USA A*02:1090 HG00050660 OP921044 Histogenetics, Ossining, NY, USA A*02:1091 HG00050654 OP830368 Histogenetics, Ossining, NY, USA A*02:1092 24814908 OQ241003 Dr. Luis A.Marin, Albacete, Spain A*02:1093 TPH21-29-F2, TPH21-29-P OQ268071 Dr. Antonio Nieto, Cadiz, Spain A*02:1094 1978045-1588984 OQ503628 Dr. Jose Samuel da Silva, Aparecida de Goiania Goias, Brazil A*02:1095 HG00050863 OQ357646 Histogenetics, Ossining, NY, USA A*02:1096 HG00050862 OQ357645 Histogenetics, Ossining, NY, USA A*02:1097 HG00050868 OQ436003 Histogenetics, Ossining, NY, USA A*02:1098 2018TB10688 OQ556862 Dr. Keming Du, Shanghai, China A*02:1099 22-1847 OP661183 Korean Red Cross Blood Transfusion Research Institute, Wonju-si, South Korea A*03:01:119 HG00050909 OQ472865 Histogenetics, Ossining, NY, USA (Continues) Below are listed the newly assigned sequences (Table 1) and confirmations of previously reported sequences (Table 2). The accession number of each sequence is given and these can be used to retrieve the sequence files from the EMBL, GenBank or DDBJ data libraries. Although accession numbers have been assigned by the data libraries","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"144-162"},"PeriodicalIF":2.2,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9885356","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}
Nan Jiang, Yong-Cong Zhong, Qing-Rong Lin, Chen-Sheng Song, Bin Yu, Yan-Jun Hu
{"title":"Solute carrier family 11 member 1 genetic polymorphisms rs17235409 and rs3731865 associate with susceptibility to extremity post-traumatic osteomyelitis in a Chinese Han population","authors":"Nan Jiang, Yong-Cong Zhong, Qing-Rong Lin, Chen-Sheng Song, Bin Yu, Yan-Jun Hu","doi":"10.1111/iji.12620","DOIUrl":"10.1111/iji.12620","url":null,"abstract":"<p>Genetic variations in the <i>solute carrier family 11 member 1</i> (<i>SLC11A1</i>) gene have been implicated in developing inflammatory disorders. However, it is still unclear whether such polymorphisms contribute to the pathogenesis of post-traumatic osteomyelitis (PTOM). Therefore, this study investigated the roles of genetic variations of the <i>SLC11A1</i> gene (rs17235409 and rs3731865) in PTOM development in a Chinese Han cohort. The SNaPshot method was used for genotyping 704 participants (336 patients and 368 controls) for rs17235409 and rs3731865. Outcomes revealed that rs17235409 increased the risk of PTOM occurrence by dominant (<i>p</i> = .037, odds ratio [OR] = 1.44) and heterozygous models (<i>p</i> = .035, OR = 1.45), implying AG genotype as a risk factor for PTOM development. In addition, patients with AG genotype had relatively higher levels of inflammatory biomarkers than those with AA and GG genotypes, especially for the white blood cell count and C-reactive protein. Despite no statistically significant differences achieved, rs3731865 may reduce the PTOM susceptibility, suggested by the results of dominant (<i>p</i> = .051, OR = 0.67) and heterozygous (<i>p</i> = .068, OR = 0.69) models. In short, rs17235409 confers an elevated chance of developing PTOM, with AG genotype as a risk factor. Whether rs3731865 involves in the pathogenesis of PTOM requires further investigations.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"127-133"},"PeriodicalIF":2.2,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9532976","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":"Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19","authors":"Gunes Cakmak Genc, Sevim Karakas Celik, Busra Yilmaz, Nihal Piskin, Bulent Altinsoy, Ahmet Dursun","doi":"10.1111/iji.12619","DOIUrl":"10.1111/iji.12619","url":null,"abstract":"<p>Coronavirus disease 2019 (COVID-19) is an infectious respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the mortality rate of the disease has been relatively under control as of 2022, more than 15 million confirmed COVID-19 cases have been detected in Turkey to date, causing more than 100,000 deaths. The clinical manifestation of the disease varies widely, ranging from asymptomatic to acute respiratory distress syndrome causing death. The immune response mechanisms have an important impact on the fine adjustment between healing and enhanced tissue damage. This study aims to investigate the relationship between the variants of the <i>interleukin 1 receptor antagonist (IL1RN), interleukin 17A (IL17A)</i>, and <i>interleukin 17F (IL17F)</i> genes and COVID-19 severity. The study population comprised 202 confirmed COVID-19 cases divided into three groups according to severity. The <i>IL1RN</i> variable number of a tandem repeat (VNTR) polymorphism was genotyped by polymerase chain reaction (PCR), and <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 polymorphisms were genotyped by the PCR-based restriction fragment length polymorphism method. Statistical analysis revealed a significant association between <i>IL17A</i> rs2275913 variant and COVID-19 severity. The AA genotype and the A allele of <i>IL17A</i> rs2275913 were found significant in the severe group. Additionally, we found a significant relationship between haplotype frequency distributions and severity of COVID-19 for the <i>IL17F</i> rs763780/rs2397084 (p = 0.044) and a combination of <i>IL17F</i> rs763780/rs2397084/ <i>IL17A</i> rs2275913 (p = 0.04). The CG and CGA haplotype frequencies were significantly higher in the severe group. <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 variants appear to have important effects on the immune response in COVID-19. In conclusion, variants of <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 may be the predictive markers for the clinical course and potential immunomodulatory treatment options in COVID-19, a disease that has placed a significant burden on our country.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"117-126"},"PeriodicalIF":2.2,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9475090","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}
Mengting Zhang, Jun Yang, Jing Zhang, Cuiyuan Huang, Haiyin Liu, Peiyue Zhang, Yuhong Zhai, Li Liu, Jian Yang
{"title":"Research progress of B subfamily of leucocyte immunoglobulin-like receptors in inflammation","authors":"Mengting Zhang, Jun Yang, Jing Zhang, Cuiyuan Huang, Haiyin Liu, Peiyue Zhang, Yuhong Zhai, Li Liu, Jian Yang","doi":"10.1111/iji.12618","DOIUrl":"10.1111/iji.12618","url":null,"abstract":"<p>Leucocyte immunoglobulin-like receptors subfamily B (LILRB) belongs to the type I transmembrane glycoproteins, which is the immunosuppressive receptor. LILRBs are widely expressed in bone marrow cells, hematopoietic stem cells, nerve cells and other body cells. Studies have found that LILRBs receptor can bind to a variety of ligands and has a variety of biological functions such as regulating inflammatory response, immune tolerance and cell differentiation. Inflammatory reaction plays a vital role in resisting microorganisms. The function of inhibitory immune receptors can recognize the signs of infection and promote the function of anti-microbial effect. The inflammatory response must be strictly regulated to prevent excessive inflammation and tissue damage. Therefore, it is of general interest to understand the role of LILRBs in the inflammatory response. Because they can inhibit the anti-microbial response of neutrophils, some human pathogens use these receptors to escape immunity. This article reviews the biological role of LILRBs in the inflammatory response. We focus on the known ligands of LILRBs, their different roles after binding with ligands, and how these receptors help to form neutrophil responses during infection. Recent studies have shown that LILRBs recruit phosphatases through intracellular tyrosine-based immunoreceptor inhibitory motifs to negatively regulate immune activation, thereby transmitting inflammation-related signals, suggesting that LILRBs may be an ideal target for the treatment of inflammatory diseases. Here, we describe in detail the regulation of LILRBs on the inflammatory response, its signal transduction mode in inflammation, and the progress in the treatment of inflammatory diseases, providing a reference for further research.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"107-116"},"PeriodicalIF":2.2,"publicationDate":"2023-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12618","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9478698","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}
Taeko K. Naruse, Makiko Konishi-Takemura, Risa Yanagida, Gaurav Sharma, Madhu Vajpayee, Hiroshi Terunuma, Narinder K. Mehra, Gurvinder Kaur, Akinori Kimura
{"title":"Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population","authors":"Taeko K. Naruse, Makiko Konishi-Takemura, Risa Yanagida, Gaurav Sharma, Madhu Vajpayee, Hiroshi Terunuma, Narinder K. Mehra, Gurvinder Kaur, Akinori Kimura","doi":"10.1111/iji.12617","DOIUrl":"10.1111/iji.12617","url":null,"abstract":"<p>One of the KIR allele, <i>KIR3DL1*007</i>, was associated with the progression to acquired immunodeficiency syndrome and not with the susceptibility to HIV-1 infection in the Japanese and Indian populations, implying that <i>KIR3DL1*007</i>-positive NK cells might eliminate HIV-infected cells less effectively than NK cells bearing the other <i>KIR3DL1</i> alleles or <i>KIR3DS1</i> alleles.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"48-52"},"PeriodicalIF":2.2,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9465859","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":"IL-17A and IL-17F polymorphisms and asthma risk: A meta-analysis","authors":"Young Ho Lee","doi":"10.1111/iji.12616","DOIUrl":"10.1111/iji.12616","url":null,"abstract":"Thank you for your comment on the publication ‘Associations between interleukin 17A and 17F polymorphisms and asthma susceptibility: A meta-analysis’ (Lee & Song, 2023). Your suggestion to focus on the effects of unexpected and potentially confounding genetic variations in future research is particularly important in light of the complexity and ongoing nature of the field of genetic research. As you pointed out, asthma is a complex disease with multiple contributing factors, and it is crucial that future research takes a comprehensive approach in order to fully understand the underlying mechanisms of the disease (Toskala & Kennedy, 2015). By focusing on unexpected and potentially confounding genetic variations, we can expand our understanding of the genetic factors associated with asthma susceptibility and identify new therapeutic targets for the treatment of this condition (Friedrich et al., 2022). Your suggestion is particularly important given the rapid advancements in genetic research and the emergence of new technologies that allow for the identification and characterization of genetic variations. By utilizing these technologies, future research can more efficiently identify novel genetic variations that may be associated with asthma susceptibility, as well as better explain the functional implications of these variations. We will take your suggestion into consideration as we continue to advance our understanding of the genetic factors associated with asthma susceptibility. Young Ho Lee","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"64"},"PeriodicalIF":2.2,"publicationDate":"2023-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10109216","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}