International Journal of Immunogenetics最新文献

{"title":"HLA-G 3′UTR haplotype analyses in HCV infection and HCV-derived cirrhosis, hepatocellular carcinoma and fibrosis","authors":"Julio Daimar Oliveira Correa,&nbsp;Francis Maria Báo Zambra,&nbsp;Rafael Tomoya Michita,&nbsp;Mário Reis Álvares-da-Silva,&nbsp;Daniel Simon,&nbsp;José Artur Bogo Chies","doi":"10.1111/iji.12636","DOIUrl":"10.1111/iji.12636","url":null,"abstract":"<p>Hepatitis C virus (HCV) infection is a major cause of chronic liver disease. Chronic HCV infection is also an important cause of hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC). HCV has the capacity to evade immune surveillance by altering the host immune response. Moreover, variations in immune-related genes can lead to differential susceptibility to HCV infection as well as interfere on the susceptibility to the development of hepatic fibrosis, cirrhosis and HCC. The human leucocyte antigen G (<i>HLA-G</i>) gene codes for an immunomodulatory protein known to be expressed in the maternal–foetal interface and in immune-privileged tissues. The <i>HLA-G</i> 3′ untranslated region (3′UTR) is important for mRNA stability, and variants in this region are known to impact gene expression. Studies, mainly focusing in a 14 bp insertion/deletion polymorphism, have correlated <i>HLA-G</i> 3′UTR with susceptibility to viral infections, but other polymorphic variants in the <i>HLA-G</i> 3′UTR might also affect HCV infection as they are inherited as haplotypes. The present study evaluated <i>HLA-G</i> 3′UTR polymorphisms and performed linkage disequilibrium test and haplotype assembly in 286 HCV infected patients who have developed fibrosis, cirrhosis or HCC, as well as in 129 healthy control subjects. Haplotypes UTR-1, UTR-2 and UTR-3 were the most observed in HCV+ patients, in the frequencies of 0.276, 0.255 and 0.121, respectively. No statistically significant difference was observed between HCV+ and control subjects, even when patients were grouped according to outcome (HCC, cirrhosis or fibrosis). Despite that, some trends in the results were observed, and therefore, we cannot rule out the possibility that variants associated to high <i>HLA-G</i> expression can be involved in HCV infection susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"249-255"},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10251930","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":"Analysis of null deletion polymorphism of glutathione S-transferase theta (GSTT-1), associated with anti-GSTT-1 antibodies development in transplantation","authors":"Manuel Muro-Perez,&nbsp;Gema González-Martínez,&nbsp;Pedro Martínez-García,&nbsp;Isabel Legaz,&nbsp;Pilar Zafrilla,&nbsp;Manuel Muro","doi":"10.1111/iji.12635","DOIUrl":"10.1111/iji.12635","url":null,"abstract":"Glutathione S‐transferase theta 1 (GSTT1) is an enzyme involved in phase II biotransformation processes and a member of a multigene family of detoxifying and clearing reactive oxygen species. GSTT1 is polymorphic like other biotransforming enzymes, allowing variability in hepatic conjugation processes. Immunological recognition of the GSTT1 alloantigen, as evidenced by donor‐specific antibodies formation, has previously been observed in recipients lacking GSTT1 protein (called GSTT1−, GSTT*0, null phenotype or homozygous for the GSTT1 deletion) who receive liver or kidney transplants from GSTT1+ donors and is a risk factor for the development of de novo hepatitis following liver transplants from a GSTT1 expressing donor. Antibodies against GSTT1 are demonstrated in patients who are GSTT1 null and received a transplant from a GSTT1+ donor. Understanding the local population frequency of the GSTT1 deletion is of value in understanding the potential clinical risk of developing post‐transplant complications, which can be attributed to the nonexpression of GSTT1. A population of 173 healthy donors of the Murcia Region in Southeast Spain was evaluated for a null allele of GSTT1 (n = 173). DNA was extracted, and GSTT‐1 null allele detection was performed by real‐time polymerase chain reaction. The frequency of the null GSTT1 genotype (nonexpression or deletion of the homozygous polymorphism of the GSTT1 protein) was 17.9% (n = 31 null allele GSTT1/173 total individuals). Our data suggest that the frequency of null GSTT1 mutations in our population in Southeast Spain is 17.9%, lower than in other Caucasoid populations. This would convert our recipient population into more susceptible to nonlocal potential organ donors and less susceptible to local donors. All recipients bearing this GSTT1 deletion homozygous would be without the protein and triggering an alloantigen in the case of transplantation with a donor without deletion.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"264-271"},"PeriodicalIF":2.2,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10547652","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":"Possible impact of HLA class I and class II on malignancies driven by a single germ-line BRCA1 mutation","authors":"Milena Ivanova,&nbsp;Anastasia Ormandjieva,&nbsp;Rumyana Dodova,&nbsp;Radka Kaneva,&nbsp;Velizar Shivarov","doi":"10.1111/iji.12631","DOIUrl":"10.1111/iji.12631","url":null,"abstract":"<p>This study provides the first immunogenetic preliminary evidence that specific human leucocyte antigen <i>(HLA) class I</i> and <i>class II</i> alleles and haplotypes may be relevant for <i>BRCA1 c.5263_5264insC</i> driven oncogenesis. Observed HLA associations might have practical implications for establishment of predictive markers for the response to immunotherapies in malignancies driven by this germ-line mutation.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"243-248"},"PeriodicalIF":2.2,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186056","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":"Correlation of CTLA-4 polymorphism and the risk of gastric cancer in a Chinese Bai population","authors":"Ping Yan,&nbsp;Shan Kong,&nbsp;Yong Zheng,&nbsp;Mingjing Cheng,&nbsp;Weidong Zhao","doi":"10.1111/iji.12632","DOIUrl":"10.1111/iji.12632","url":null,"abstract":"<p>Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is involved in the regulation of immune responses mediated by T cells. This study aimed to explore the correlation between CTLA-4 gene polymorphisms and the risk of gastric cancer (GC) in the Bai minority population of southwestern China. A total of 422 GC patients and 397 healthy controls (HC) were included in this case–control study. Four single nucleotide polymorphism sites of CTLA-4 gene (rs231775, rs733618, rs16840252 and rs3087243) were selected and analysed. The results showed a significant difference in the rs733618 loci between GC and HC groups. The frequency of the rs733618 polymorphism ‘TC’ genotype was significantly lower in GC group compared to the HC group [odds ratio (OR), 95% confidence interval (CI): .47 (.35–.63), <i>p</i> &lt; .001]. GC cases with dominant genetic model ‘TC + CC’ had a 47% reduced risk of GC [OR, 95%CI: .53 (.40–.71), <i>p</i> &lt; .001]. Subgroup analyses revealed that the rs733618 ‘TC + CC’ genotype was associated with a lower risk of GC in male patients [OR, 95%CI: .42 (.31–.58), <i>p</i> &lt; .001], those aged ≤60 years old [OR, 95%CI: .27 (.18–.42), <i>p</i> &lt; .001], non-drinkers [OR, 95%CI: .21 (.13–.33), <i>p</i> &lt; .001], non-smokers [OR, 95%CI: .38 (.25–.57), <i>p</i> &lt; .001] and individuals without <i>Helicobacter pylori</i> infection [OR, 95%CI: .16 (.10–.26), <i>p</i> &lt; .001]. Further multivariated analyses indicated that individuals with the ‘TC + CC’ rs733618 genotype who were aged ≤60 years old [OR, 95%CI: .42 (.29–.83), <i>p</i> = .032] and had no <i>H. pylori</i> infection [OR, 95%CI: .35 (.28–.76), <i>p</i> = .018] were found to have a protective effect against GC. Additionally, soluble CTLA-4 were significantly lower in GC patients with ‘TC’ and ‘TC + CC’ genotypes (all <i>p</i> &lt; .05). Our findings suggest that the rs733618 polymorphism of CTLA-4 gene may play a critical role in the prevention of GC.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"256-263"},"PeriodicalIF":2.2,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186043","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":"HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China","authors":"Nanying Chen,&nbsp;Fang Wang,&nbsp;Yanmin Zhao,&nbsp;Lina Dong,&nbsp;Wei Wang,&nbsp;Wei Zhang,&nbsp;Ji He,&nbsp;Faming Zhu","doi":"10.1111/iji.12629","DOIUrl":"10.1111/iji.12629","url":null,"abstract":"<p>The association between <i>HLA</i> loci and haematological malignancy has been reported in certain populations. However, there are limited data for <i>HLA</i> loci at a high-resolution level with haematological malignancy in China. In this study, a total of 1115 patients with haematological malignancies (including 490 AML, 410 acute lymphoblastic leukaemia (ALL), 122 myelodysplastic syndrome [MDS] and 93 non-Hodgkin's lymphoma [NHL]) and 1836 healthy individuals as a control group in the Han population of Zhejiang Province, China, were genotyped for <i>HLA-A</i>, <i>HLA-C</i>, <i>HLA-B</i>, <i>HLA-DRB1</i> and <i>HLA-DQB1</i> loci at high resolution. The possible association between <i>HLA</i> alleles and haplotypes and haematologic malignancy was analysed. The allele frequencies (AFs) of <i>HLA-A*02:05</i>, <i>HLA-A*02:06</i>, <i>HLA-A*32:01</i>, <i>HLA-B*35:03</i>, <i>HLA-B*54:01</i>, <i>HLA-B*55:07</i>, <i>HLA-DRB1*04:05</i>, <i>HLA-DRB1*15:01</i>, <i>HLA-DQB1*04:01</i> and <i>HLA</i>-<i>DQB1*06:02</i> in the MDS patients were much higher than those in the control group (<i>P</i> &lt; 0.05), while the AFs of <i>HLA-C*07:02</i>, <i>HLA-DRB1*03:01</i>, <i>HLA-DRB1*14:54</i>, <i>HLA-DQB1*02:01</i> and <i>HLA-DQB1*05:03</i> were obviously lower than those in the control group (<i>p</i> &lt; .05). Interestingly, the differences in these <i>HLA</i> alleles in patients with MDS were not significant after applying Bonferroni correction (<i>Pc</i> &gt; .05), except for <i>HLA-A*02:06</i> (<i>Pc</i> &lt; .01). There were 13, 6 and 10 <i>HLA</i> alleles with uncorrected significant differences (<i>p</i> &lt; .05) among patients with AML, ALL and NHL, respectively, compared with those in the control group, but the differences in these <i>HLA</i> alleles were not significant after correction (<i>Pc</i> &gt; .05). Compared to those of the control group, there were some haplotypes over 1.00% frequency in patients with AML, MDS and NHL patients with uncorrected significant differences (<i>p</i> &lt; .05). However, none of them showed a significant difference after correction as well (<i>Pc</i> &gt; .05). The study reveals that <i>HLA-A*02:06</i> may lead to susceptibility to MDS, but none of the <i>HLA</i> alleles were associated with AML, ALL or NHL after correction. These data will help to further understand the role of <i>HLA</i> loci in the pathogenesis of haematological malignancy in China.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"233-242"},"PeriodicalIF":2.2,"publicationDate":"2023-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10546153","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":"Nomenclature for factors of the HLA system, update April, May and June 2023","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12628","DOIUrl":"10.1111/iji.12628","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since the January, February and March 2023 nomenclature update (Marsh, 2023) and, following agreed policy, have been assigned official allele designations (Marsh et al., 2010). Full details of all sequences will be published in a forthcoming report. 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 and most sequences are already available, there is still the possibility that an author may not yet have allowed the sequence to be released; in such a case, you will have to contact the submitting author directly. Additional information pertaining to new sequences is often included in the publications describing these alleles; a listing of recent publications that describe new HLA sequences is given in Table 3. An additional 122 alleles were recently published but have not been included in Table 3 due to space considerations (Bishara et al., 2023). In addition, the alleles A*02:03:12, A*03:01:96, A*11:01:98, A*30:02:25, A*34:01:06, A*68:01:59, DRB1*10:38Q and DRB1*11:01:01:12Q have had suffix changes and have been renamed A*02:03:12Q, A*03:01:96Q, A*11:01:98Q, A*30:02:25Q, A*34:01:06Q, A*68:01:59Q, DRB1*10:38 and DRB1*11:01:01:12N, respectively. Furthermore, the sequence for the allele A*24:459:02 was named in error and has been renamed A*24:608. The name A*24:459:02 has therefore been deleted. Finally, the allele B*56:05:02 was extended and renamed B*56:94. The allele name B*56:05:02 has been deleted. All new and confirmatory sequences should now be submitted directly to theWHONomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLA Database using the sequence submission tool provided (Barker et al., 2023). The IPD-IMGT/HLA Database may be accessed via the World WideWeb at www.ebi.ac.uk/ipd/imgt/ hla.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"206-232"},"PeriodicalIF":2.2,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9902963","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":"Human leukocyte antigen-G in gynaecological tumours","authors":"Xinmeng Guo,&nbsp;Jinning Zhang,&nbsp;Jin Shang,&nbsp;Yanfei Cheng,&nbsp;Shuang Tian,&nbsp;Yuanqing Yao","doi":"10.1111/iji.12626","DOIUrl":"10.1111/iji.12626","url":null,"abstract":"<p>Gynaecological tumours that threaten the health of women, especially when advanced and recurrent, have remained mostly intractable to existing treatments. Therefore, new therapeutic targets are urgently needed. Human leukocyte antigen-G (HLA-G) is a nonclassical major histocompatibility complex class I molecule typically expressed in foetuses for protection against destruction by the maternal immune system. HLA-G is also expressed under pathological conditions, such as in solid tumours, and may participate in tumour development and serve as a novel immune checkpoint in cancer. Furthermore, it is expressed in most gynaecological tumours. Therefore, inhibiting HLA-G and its receptors to block the immune escape pathway could represent a new strategy in cancer immunotherapy. To the best of our knowledge, this review is the first to summarize recent research findings on HLA-G in gynaecological oncology. We highlight the fact that HLA-G is expressed in gynaecological tumour tissues, wherein it inactivates immune effectors involved in tumour progression. Further studies on HLA-G in gynaecological oncology are needed to incorporate HLA-G into the design and evaluation of immunotherapy for malignant gynaecological diseases.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"163-176"},"PeriodicalIF":2.2,"publicationDate":"2023-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12626","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9861884","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":"ICOS gene polymorphisms in systemic lupus erythematosus: A case–control study","authors":"Hana Houssaini,&nbsp;Emna Bouallegui,&nbsp;Olfa Abida,&nbsp;Safa Tahri,&nbsp;Nesrine Elloumi,&nbsp;Hend Hachicha,&nbsp;Sameh Marzouk,&nbsp;Zouhir Bahloul,&nbsp;Hatem Masmoudi,&nbsp;Raouia Fakhfakh","doi":"10.1111/iji.12625","DOIUrl":"10.1111/iji.12625","url":null,"abstract":"<p>The inducible T-cell costimulator (ICOS) may play an important role in adaptive immunity by regulating the interaction between T cells and antigen-presenting cells. Disruption of this molecule can lead to autoimmune diseases, in particular systemic lupus erythematosus (SLE). In this study, we aimed to explore the possible association between <i>ICOS</i> gene polymorphisms and SLE as well as their influence on disease susceptibility and clinical outcomes. A further objective was to assess the potential impact of these polymorphisms on RNA expression. A case–control study, including 151 patients with SLE, and 291 unrelated healthy controls (HC) matched in gender, and geographical origin, was performed to genotype two polymorphisms located in the <i>ICOS</i> gene: rs11889031 (−693 G/A) and rs10932029 (IVS1 + 173 T/C); using the polymerase chain reaction (PCR)-restriction fragment length polymorphism method. The different genotypes were validated by direct sequencing. The expression level of <i>ICOS</i> mRNA was assessed by quantitative PCR in peripheral blood mononuclear cells of SLE patients and HC. The results were analysed using Shesis and <span>spss</span>.20. Our results revealed a significant association between <i>ICOS</i> gene rs11889031 &gt; CC genotype and SLE disease (codominant genetic model 1, (C/C vs. C/T), <i>p</i> = .001, odds ratio [OR] = 2.18 IC [1.36–3.49]); codominant genetic model 2, (C/C vs. T/T) <i>p</i> = .007, OR = 15.29 IC [1.97–118.5]); dominant genetic model, (C/C vs. C/T + T/T) <i>p</i> = .0001, OR = 2.44 IC [1.53–3.9]). Besides, there was a marginal association between rs11889031 &gt; TT genotype and T allele with a protective role from SLE (recessive genetic model, <i>p</i> = .016, OR = 0.08 IC [0.01–0.63] and <i>p</i> = 7.6904E − 05, OR = 0.43 IC = [0.28–0.66], respectively). Moreover, statistical analysis indicated that the rs11889031 &gt; CC genotype was linked with clinical and serological manifestations of SLE, including blood pressure, and anti-SSA antibodies production in SLE patients. However, the <i>ICOS</i> gene rs10932029 polymorphism was not associated with susceptibility to SLE. On the other side, we did not note any effect of the two selected polymorphisms on the level of <i>ICOS</i> mRNA gene expression. The study showed a significant predisposing association of the <i>ICOS</i> rs11889031 &gt; CC genotype with SLE, in contrast to a protective effect of rs11889031 &gt; TT genotype in Tunisian patients. Our results suggest that <i>ICOS</i> rs11889031 may act as a risk factor for SLE and could be used as a genetic susceptibility biomarker.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"194-205"},"PeriodicalIF":2.2,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9910056","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":"Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience","authors":"Sevim Busra Korkmaz,&nbsp;Mehmet Ali Karaselek,&nbsp;Selma Erol Aytekin,&nbsp;Huseyin Tokgoz,&nbsp;Ismail Reisli,&nbsp;Sukru Guner,&nbsp;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/mm³ in 95% of the patients. The CD3⁺ T cell count was 300/mm³ 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/mm³ 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}

{"title":"Interleukin-21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease","authors":"Rajaa Lahmar,&nbsp;Elyes Chabchoub,&nbsp;Ramzi Zemni,&nbsp;Mzabi Anis,&nbsp;Neirouz Ghannouchi,&nbsp;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}