International Journal of Immunogenetics最新文献

{"title":"New Evidence of TLR4 and TLR9 Variants Influencing Parasitaemia and Symptoms of Plasmodium vivax Infection","authors":"Mikaele Monik Rodrigues Inácio Silva,&nbsp;Gabriela Maria Andrade Correia,&nbsp;Juliana Dal-Ri Lindenau,&nbsp;Maristela Gomes Cunha,&nbsp;Maria Deise Oliveira Ohnishi,&nbsp;Ana Maria Revoredo Silva Ventura,&nbsp;Ândrea Ribeiro-dos-Santos,&nbsp;Mara Helena Hutz,&nbsp;Vinicius Albuquerque Sortica","doi":"10.1111/iji.70014","DOIUrl":"10.1111/iji.70014","url":null,"abstract":"<p>Toll-like receptors (TLRs) induce the production of pro-inflammatory cytokines and regulate the immune response to <i>Plasmodium vivax</i> infection. Genetic variants of <i>TLRs</i> are associated with susceptibility and severity of malaria in different populations. This study aimed to evaluate the association between polymorphisms in <i>TLR1, TLR4, TLR7, TLR8, TLR9</i> and <i>TIRAP</i> and the clinical manifestations of malaria caused by <i>P. vivax</i> in a population from the Amazon region of Pará, Brazil. A total of 148 individuals with symptomatic uncomplicated malaria were genotyped for rs4833095, rs1927911, rs179008, rs3764880, rs352140 and rs8177374 variants, and their associations with parasitaemia levels, gametocytaemia and clinical index were analysed using generalised linear models. <i>TLR9</i> rs352140TT homozygotes had higher parasitaemia levels than C allele carriers (<i>p</i> = 0.034). <i>TLR4</i> rs1927911GG homozygotes had a higher clinical index than A allele carriers (<i>p</i> = 0.018). Our results describe, for the first time, the association of the rs1927911 variant found in intron 1 of <i>TLR4</i> with <i>P. vivax</i> malaria symptoms in Brazilian Amazonian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"371-378"},"PeriodicalIF":1.1,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145080560","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":"HLAtools, Searching Shared HLA Amino Acid Residue Prevalence, and the Global Frequency Browsers: New Computational Resources for Working With HLA Data and Visualizing Global Patterns of HLA Variation","authors":"Livia Tran,&nbsp;Ryan Nickens,&nbsp;Vinh Luu,&nbsp;Effie W. Petersdorf,&nbsp;Steven J. Mack","doi":"10.1111/iji.70013","DOIUrl":"10.1111/iji.70013","url":null,"abstract":"<p>The highly polymorphic HLA genes inform susceptibility and resistance to infectious and autoimmune diseases and cancers and are key for successful solid-organ and stem-cell transplantation therapies. Over 41,000 HLA alleles are known and are unevenly distributed across the human population. Here, we describe HLAtools, Searching Shared HLA Amino-Acid Residue Prevalence (SSHAARP) and the Global Frequency Browser (GFB), new informatic tools developed to facilitate working with HLA data and visualizing the global distribution of HLA variants in human populations. HLAtools is an R package that consumes static resources for HLA alleles and sequences and makes these data locally computable alongside data-query, data-customization and data-analysis functions. The package further includes new reference datasets that dissect and catalogue HLA regions and HLA gene structures and provide insight into the organization of HLA pseudogenes and gene fragments. SSHAARP is an R package that describes the frequency distributions of individual HLA haplotypes, alleles and amino-acid motifs as global heatmaps. Allele frequency maps for more than 800 HLA alleles can be browsed using the GFB web and mobile applications. HLAtools and SSHAARP are available from the Comprehensive R Archive Network, and the GFB apps are available on GitHub.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"358-370"},"PeriodicalIF":1.1,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145064632","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":"Abstract","authors":"","doi":"10.1111/iji.70006","DOIUrl":"https://doi.org/10.1111/iji.70006","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 S1","pages":"S3-S16"},"PeriodicalIF":1.1,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144930068","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":"The Association of IL-17RC Polymorphisms rs708567 and rs76999397 With Acute Lymphoblastic Leukaemia","authors":"Ali Aljuaimlani,&nbsp;Lamjed Mansour,&nbsp;Jameel Al-Tamimi,&nbsp;Jamilah Alshammari,&nbsp;Safa A. Alqarzae,&nbsp;Fadwa M. Alkhulaifi,&nbsp;Suliman Alomar","doi":"10.1111/iji.70012","DOIUrl":"10.1111/iji.70012","url":null,"abstract":"<p>Background: Acute lymphoblastic leukaemia (ALL) is characterized by the clonal proliferation of immature lymphoid precursors in the bone marrow or peripheral blood. This study investigates whether genetic polymorphisms in <i>IL-17RC</i> are associated with an increased risk of ALL in the Saudi population.</p><p>Methods: This case-control study included 95 patients with ALL and 95 matched controls. Genetic polymorphisms and their associations with ALL risk were identified using logistic regression analysis. Additionally, quantitative real-time polymerase chain reaction (qRT-PCR) was used to assess the level of <i>IL-17RC</i> mRNA.</p><p>Results: The results revealed that carriers of the GA and AA genotypes of rs76999397 had a significantly increased risk of ALL (GA: odds ratios [OR] = 63.78, 95% confidence interval [CI] = 25.51–159.43, <i>p</i> &lt; 0.0001; AA: OR = 18.22, 95% CI = 1.50–221.37, <i>p</i> &lt; 0.0001). Additionally, we identified that an increased risk of ALL was associated with two haplotypes in <i>IL-17RC</i>, C-A and T-A (in the order of rs708567 and rs76999397) (OR = 46.73, 95% CI = 17.30–126.28; OR = 49.42, 95% CI = 6.95–351.45, respectively).</p><p>Conclusions: The results suggested that the GA and AA genotypes of rs76999397 were significantly associated with an increased risk of ALL, whereas rs708567 did not show a significant association. Furthermore, the CA and TA haplotypes (rs708567/rs76999397) were found to be associated with increased susceptibility to ALL.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"352-357"},"PeriodicalIF":1.1,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953374","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":"A Prospective Pilot Study to Investigate Whether Donor-Derived Cell-Free DNA Can Be Used as a Biomarker of Recurrent IgA Nephropathy Post–Kidney Transplantation","authors":"Judith Owusuwaah Asiedu-Basoah,&nbsp;Stephen Weston,&nbsp;Jonathan Barratt,&nbsp;Justyna Szklarzewicz,&nbsp;Paul Dunn","doi":"10.1111/iji.70010","DOIUrl":"10.1111/iji.70010","url":null,"abstract":"<p>IgA nephropathy (IgAN) is one of the most prevalent glomerulonephropathies and commonly leads to kidney failure. The recurrence of IgAN following transplantation remains a significant concern. Currently, detecting IgAN recurrence requires a kidney biopsy, highlighting the need for non-invasive biomarkers such as donor-derived cell-free DNA (dd-cfDNA) to aid in early detection. This prospective pilot study aims to evaluate dd-cfDNA as a non-invasive biomarker for detecting IgAN recurrence post–kidney transplantation. Specifically, the study seeks to compare %dd-cfDNA levels in transplanted patients with and without IgAN recurrence and correlate these levels with other kidney function parameters. A total of 32 patients with histologically confirmed IgAN were enrolled, including those with documented IgAN recurrence post-transplantation and those without recurrence. Plasma samples were collected and processed using the AlloSeq cfDNA kit to quantify relative %dd-cfDNA levels. Kidney function parameters, including estimated glomerular filtration rate (eGFR) and proteinuria, were also assessed. The study found no significant difference in %dd-cfDNA levels between transplanted patients with IgAN recurrence and those without recurrence (median 0.37% [IQR 0.28%–3.53%] vs. median 0.42% [IQR 0.15%–0.84%], <i>p =</i> 0.67). Also, %dd-cfDNA (AUC = 0.57 [95% CI 0.28–0.85], <i>p =</i> 0.64) failed to effectively discriminate IgAN recurrence compared to traditional kidney function parameters such as proteinuria (AUC = 0.96 [95% CI 0.87–1.00], <i>p =</i> 0.002) and eGFR (AUC = 0.74 [95% CI 0.47–1.00], <i>p =</i> 0.09). Relative (%) dd-cfDNA alone may not be a robust biomarker for detecting IgAN recurrence post-transplantation. While proteinuria proved a more effective indicator in this study, kidney biopsy remains the gold standard for definitive diagnosis. These findings highlight the challenges of using %dd-cfDNA as a standalone diagnostic tool for monitoring IgAN recurrence post-transplantation. Future research should explore larger patient cohorts and longitudinal assessments to refine the utility of dd-cfDNA and investigate potential combination strategies with other biomarkers.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"342-351"},"PeriodicalIF":1.1,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953300","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":"Risk Genes and Anti-C1q Autoantibodies in Upper Egyptian Patients With Systemic Lupus Erythromatosis—High Frequency of HLA-DRB1*04:05–DQA1*03–DQB1*02 Risk Haplotype in Lupus Nephritis Patients","authors":"Mostafa I. EL-Amir,&nbsp;Mohamed Ali El-Feky,&nbsp;Abdelkader Ahmed Hashim,&nbsp;Mohammed H. Hassan,&nbsp;Marwa Abdelhady,&nbsp;Wael Abd El Mohsen Abady,&nbsp;Amr Mohamed ElKaber,&nbsp;Jorma Ilonen","doi":"10.1111/iji.70009","DOIUrl":"10.1111/iji.70009","url":null,"abstract":"<div>\u0000 \u0000 <p>This study was performed to determine anti-C1q serum level, genetic polymorphism in cytotoxic T lymphocyte–associated antigen 4 gene (CTLA-4 gene) (rs 231775), and HLA class II genes in susceptibility and early prediction of systemic lupus erythematosus (SLE) and lupus nephritis (LN) in Upper Egyptian patients. A total of 60 unrelated cases of SLE (30 cases with LN) and 60 healthy controls were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles. Anti-C1q level was estimated by ELISA. CTLA-4 gene genotypes were detected by PCR-RFLP. The means of age of SLE patients without nephritis and LN patients were 24 ± 5.09 and 32 ± 7.26, respectively. Most of the patients were females (93.3%). Anti-C1q serum level was significantly higher in LN patients (24.11 ± 4.26) versus SLE patients without nephritis (18.17 ± 1.35) (<i>p</i> value &lt; 0.001). The AA genotype of the CTLA-4 gene was significantly higher in patients with LN versus SLE patients without nephritis (53.5% vs. 26.5%; <i>p</i> value = 0.035). (DR7)—DQA1*02-DQB1*0303 haplotype was higher in SLE patients versus the control group and showed the highest odds ratio (7.37) with a significant <i>p</i> value (0.031). Odds ratios of DRB1*0405–DQA1*03–DQB1*0302 and DRB1*0405–DQA1*03–DQB1*02 were 6.263 and 4.214, respectively. DRB1*0405–DQA1*03–DQB1*02 haplotype was detected in 11.7% of LN patients versus 1.7% of SLE patients without nephritis (OR = 8.82, <i>p</i> value = 0.02). DRB1*0405–DQA1*03–DQB1*02 haplotype, in addition to CTLA-4 gene (AA genotype), and high anti-C1q serum level can predict the progression of SLE Upper Egyptian patients to LN.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 6","pages":"335-341"},"PeriodicalIF":1.1,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144953343","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 2025","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.70005","DOIUrl":"10.1111/iji.70005","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"278-310"},"PeriodicalIF":1.1,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144698451","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":"Polymorphism Analysis as Biomarker in Genes AIRE, CD40, HLA-DRB1 and TRAF1/C5 SNPs in Rheumatoid Arthritis Patients","authors":"Yalong Liu,&nbsp;Ayesha Chaudhary,&nbsp;Kanza Quddus,&nbsp;Mehwish Aslam,&nbsp;Anisa Iftikhar,&nbsp;Azmat Ali Khan,&nbsp;Amer M. Alanazi,&nbsp;Kashif Bashir","doi":"10.1111/iji.70007","DOIUrl":"10.1111/iji.70007","url":null,"abstract":"<div>\u0000 \u0000 <p>The main objective of the study was to determine the association of genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488) polymorphisms with rheumatoid arthritis (RA) from the population of Pakistan. Blood samples of 300 RA patients and 300 healthy controls were taken from different hospitals in Pakistan. Extraction of DNA was carried out; a specific region of DNA was amplified using PCR. Polymorphic analysis was performed for genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488). The demographic parameters, like age, showed statistically significant association and increased the risk of the disease up to 2-fold (odds ratio [OR] = 2.57; 95% confidence interval [CI] = 1.60–4.12; <i>p</i> = 0.0001). Gender and family history did not show any significant association with arthritis (OR = 1.12; 95% CI = 0.69–1.81; <i>p</i> = 0.6260; OR = 0.70; 95% CI = 0.44–1.11; <i>p</i> = 0.1313, respectively). In the case of smoking status, the difference was statistically significant for both smokers and non-smokers. In smokers, there was a decreased risk of RA (OR = 0.45; 95% CI = 0.28–0.73; <i>p</i> = 0.0011), and in non-smokers, there was an increased risk of disease up to 2-fold (OR = 2.17; 95% CI = 1.36–3.47; <i>p</i> = 0.0011). In <i>AIRE</i> gene, heterozygous (AG) of rs2075876 showed a highly significant association with increased risk of RA up to 3-fold (OR = 3.39; 95% CI = 2.08–5.54; <i>p</i> = 0.0001), whereas homozygous mutant (GG) also showed significant association (OR = 0.43; 95% CI = 0.26–0.72; <i>p</i> = 0.0014) but with decreased risk. In <i>CD40</i> gene, heterozygous (AG) of rs4810485 showed significant association with a decreased risk of RA (OR = 0.59; 95% CI = 0.377–0.945; <i>p</i> = 0.027), whereas the homozygous mutant (GG) of rs4810485 showed highly significant association by increasing risk of up to 4-fold (OR = 4.318; 95% CI = 2.553–7.303; <i>p</i> = 0.0001). In <i>HLA-DRB1</i> gene, heterozygous (CT) of rs6457617 showed significant association with a decreased risk of disease (OR = 0.52; 95% CI = 0.35–0.85; <i>p</i> = 0.007), whereas the homozygous mutant (TT) of rs6457617 showed highly significant association by increasing the risk of RA up to 4-fold (OR = 4.37; 95% CI = 2.55–7.47; <i>p</i> = 0.0001). In the <i>TRAF1/C5</i> gene, heterozygosity (AG) of rs10818488 showed a significant association with an increased risk of disease up to 4-fold (OR = 4.06; 95% CI = 2.38–6.98; <i>p</i> = 0.0001). Highly significant associations of genes <i>AIRE</i> (rs2075876), <i>CD40</i> (rs4810485), <i>HLA-DRB1</i> (rs6457617) and <i>TRAF1/C5</i> (rs10818488) polymorphisms were observed with RA.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"262-273"},"PeriodicalIF":1.1,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690135","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 6 Promoter Region Polymorphism in Patients With Type 2 Diabetes Mellitus, Study in One Egyptian Centre","authors":"Mohamad Mohsen Motawea,&nbsp;Ahmed Mohsen Faheem,&nbsp;Maysaa El Sayed Zaki,&nbsp;Mohamed Saleh Ismail,&nbsp;Noha Tharwat Abou El-khier,&nbsp;Aml Mohamed Nada","doi":"10.1111/iji.70004","DOIUrl":"10.1111/iji.70004","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Evidence indicates a connection between diabetes mellitus type 2 (DM2) and a chronic inflammatory reaction controlled by cytokines such as interleukin 6 (IL-6). This study examines the genetic variation in the IL-6 promoter region (rs1800796) among patients with DM2 compared to healthy individuals. Additionally, the study intends to quantify the levels of IL-6 in both groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>We evaluated the IL-6 levels in the blood samples from both groups and used restriction fragment length polymorphism to assess the presence of polymorphism in the IL-6 promoter region rs1800796. The study included 100 patients with DM2 and 100 healthy control subjects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>The prevalence of the GC genotype was significantly higher in patients (72%) compared to controls (51%), with a <i>p</i> value of 0.001. Additionally, there was a substantial rise in the CC genotype among patients (10%) compared to controls (4%). IL-6 levels were considerably elevated in individuals with the CC genotype compared to those with the GG genotype (<i>p</i>1 = 0.001). Additionally, IL-6 levels were significantly higher than those with the GC genotype (75.1) than those with the GG genotype (<i>p</i>2 = 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>This study highlights the increased levels of IL-6 in DM2, indicating a persistent inflammatory response that may contribute to developing DM2. There is an apparent increase in the GC and CC genotypes in the promoter rs1800796 among people with diabetes. This suggests these genotypes may be genetic risk factors for DM2 in Egyptians. Furthermore, we linked these genetic variations to increased levels of IL-6.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"256-261"},"PeriodicalIF":1.1,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636980","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":"Co-Occurrence of HIV-Susceptibility and -Protective HLA Alleles Is a Possible Contributor to the Development of Primary HIV-Associated Thrombocytopenia (PHAT): A Cross-Sectional Study","authors":"Walter J Janse van Rensburg,&nbsp;Anne-Cecilia van Marle,&nbsp;Lomari Geertsema","doi":"10.1111/iji.70003","DOIUrl":"10.1111/iji.70003","url":null,"abstract":"<p>Primary HIV-associated thrombocytopenia (PHAT) is an isolated thrombocytopenia in HIV-positive individuals in the absence of secondary causes. The presence of certain Human Leukocyte Antigens (HLA) has been linked to individuals’ immune response to HIV and the development of immune-mediated thrombocytopenic disorders. Considering the established associations between HLA and HIV infection and HLA and immune-mediated thrombocytopenias, we hypothesise that specific HLA alleles may also increase the risk of developing PHAT, a condition that links both HIV and immune-mediated thrombocytopenia. Therefore, the study aimed to determine the frequency of high-resolution HLA alleles in patients presenting with possible PHAT. Following a detailed screening process, we evaluated the HLA profiles of 43 participants with probable PHAT using the Axiom Precision Medicine Diversity Array (PMDA) Kit on the GeneTitan Multi-Channel instrument. No single HLA allele was found to be more prominent in our PHAT population. However, 93.02% of participants had both HIV-protective and HIV-susceptible alleles. The potential mechanism causing thrombocytopenia to be the only clinically relevant haematological abnormality in these patients remains to be explored. We concluded that the presence of both an HIV-protective and HIV-susceptibility allele in the same individual may cause antagonistic immune reactions, resulting in thrombocytopenia in HIV-positive individuals. We propose future long-term follow-up studies to determine the progression and outcome in patients with PHAT.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 5","pages":"249-255"},"PeriodicalIF":1.1,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144636979","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}