Dina A Mohareb, Ahmad K Mostafa, Mai M Nosair, Hamdy N El-Tallawy, Dina Zamzam, Shima G Mansor, Marwa A Dahpy, Randa A El Zohne
{"title":"Detection of STAT4 in Multiple Sclerosis patients by polymerase chain reaction and flowcytometry.","authors":"Dina A Mohareb, Ahmad K Mostafa, Mai M Nosair, Hamdy N El-Tallawy, Dina Zamzam, Shima G Mansor, Marwa A Dahpy, Randa A El Zohne","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a disease of the central nervous system, characterized by progressive demyelination and inflammation. MS is characterized by immune system attacks on the myelin sheath surrounding nerve fibers. Genome-wide association studies revealed a polymorphism in the signal transducer and activator of transcription 4 (STAT4) gene that increases risk for MS. This polymorphism affects the T helper1 (Th1) cells to secrete the cytokine interferon-gamma when stimulated by interleukin (IL)-12. This study aimed to determine the association of MS active disease with STAT4 genotypes, detected by the polymerase chain reaction (PCR) and STAT4 protein level detected by flowcytometry. The study included 80 MS patients, and 70 controls matched for age and gender. We used the restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) and flowcytometry to detect STAT4 gene polymorphism. Our results showed that, in MS patients, STAT4 genotypes of GC and CC as detected by PCR, were more common when compared to controls. The C allele of the STAT4 gene was also more common in MS patients than controls. The STAT4 GC genotype was associated with MS disease activity. Active MS patients also had a much greater frequency of the STAT4 C allele than the G allele or the control group. The STAT4 proteins level by flowcytometry among the active MS studied patients was higher than its level in the inactive patients and controls. In conclusion, this study demonstrated that both techniques are complementary to each other to detect STAT4 level in MS patients and its association with the disease activity. STAT4 proteins expression detected by flowcytometry in the peripheral blood leukocytes could be used as a biomarker for monitoring disease activity in MS patients.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"116-128"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sariya Khan, Husna I Thalib, Ayesha Jamal, Zainab M A Takroni, Mohammed A Alfaqih, Manal El Said
{"title":"Efficacy of liposomal amphotericin B in treating fungal meningitis in AIDS Patients: A review article.","authors":"Sariya Khan, Husna I Thalib, Ayesha Jamal, Zainab M A Takroni, Mohammed A Alfaqih, Manal El Said","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cryptococcal meningitis is an alarming fungal infection that usually affects the meninges surrounding the brain and spinal cord. The causative organism is Cryptococcus neoformans. Although this infection can occur in normal individuals, it is more often seen in patients with human immunodeficiency virus/acquired immunodeficiency syndrome. Amphotericin B is an antifungal medication often used to treat severe fungal infections. It belongs to the class of polyene antifungal drugs, and it acts by binding to the cell membrane of the fungus. This causes some essential cellular components to leak out and ultimately the fungus dies. However, the administration of Amphotericin B is associated with toxicity. Therefore, lipid formulations are preferred to decrease the toxicity and increase the therapeutic index of the drug. It is widely used since it has a longer tissue half-life, the drug induced toxic effects are lower and it can penetrate the brain tissue efficaciously. This review collects and analyzes several research studies and literature reviews found in the electronic databases. The inclusion criteria prioritize studies focusing on the efficacy and drawbacks of using liposomal Amphotericin B as a treatment for fungal meningitis. In conclusion, liposomal Amphotericin B showed more effective treatment compared to other available antifungal drugs. Patients treated with a single dose of liposomal Amphotericin B coupled with fluconazole and flucytosine exhibited fewer adverse events and the mortality rate was also lower as compared to the control group.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"27-41"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rasha K Mahdi, Aqeel H Al Jothery, Kawthar H Msayer, Alaa T Al-Hassnawi
{"title":"Effect of thyroid dysfunction on apoptosis markers: Caspase-3 and Bcl-2 among Iraqi patients.","authors":"Rasha K Mahdi, Aqeel H Al Jothery, Kawthar H Msayer, Alaa T Al-Hassnawi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Thyroid hormones are considered vital for cellular life history starting from its proliferation, differentiation, and ending up with its apoptosis. However, there are very limited human studies concerning the effect of thyroid dysfunction on the levels of apoptosis markers. Therefore, the aim of this cross-sectional study was to examine the effect of thyroid dysfunction (hyperthyroidism and hypothyroidism) on the levels of serum caspase-3, B-cell lymphoma (Bcl-2) and thyroid stimulating hormone (TSH) among patients in Babylon, Iraq. The study included 52 male patients (aged 25-50 years) with thyroid dysfunction, visited the Endocrinology center in Al-imam al-Sadiq hospital located in Babylon province, Iraq during the period from November 2023 to May 2024. Patients were split into two groups (patients with hypothyroidism, N=26; patients with hyperthyroidism, N=26), in addition to 26 subjects without thyroid dysfunction as a control group. Levels of serum caspase-3, Bcl-2, and TSH were measured in all study subjects. The results indicated that levels of serum caspase-3 were significantly increased in both patients' groups compared to the control group (p < 0.001), while serum Bcl-2 was significantly increased in patients with hypothyroidism compared to other study groups (p < 0.001). Levels of TSH were significantly greater among patients with hypothyroidism comparing to other groups (p < 0.001). It can be concluded that patients with hyperthyroidism and hypothyroidism enhance apoptosis through activation of caspase-3 specifically.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"50-55"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rana G Abdelfatah, Gehan M Kamal, Dina M Abdo, Fady S Kamal, Haydi S Mohamed
{"title":"Assessment of serum soluble transferrin receptor in adult Egyptian aplastic anemia patients.","authors":"Rana G Abdelfatah, Gehan M Kamal, Dina M Abdo, Fady S Kamal, Haydi S Mohamed","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Aplastic Anemia (AA) is one of the life-threatening bone marrow failure syndromes. One of the main pathologies of AA is reduced erythropoietic activity evidenced by decreased soluble transferrin receptor (sTfR) levels which results in minimal iron utilization and accumulation of iron in tissues in the form of ferritin. This study aimed to measure serum level of sTfR in adult AA patients and correlate it with the severity of the disease and the response to treatment. The study included 35 randomly selected AA patients recruited from the Hematology Department, aged from 17 to 66 years and 27 normal controls of matched age and sex. The level of sTfR was measured by using an enzyme linked immunoassay. The median level of sTfR was significantly lower in AA cases than in controls (17.9 nmol/l, ranged 9.87-30.42 nmol/l vs. 52.2 nmol/l; ranged 29.74-86.84 nmol/l, (p < 0.001). The concentration of sTfR was significantly lower in the Very Severe Aplastic Anemia (VSAA) patients in comparison to Severe Aplastic Anemia (SAA) 34.27 nmol/l (ranged 31.05 - 45.41 nmol/l) vs. 55.15 nmol/l (ranged 48.78-63.88 nmol/l), respectively, p= 0.004). The level of sTfR in responders to immunosuppressive treatment did not show any difference in comparison to non-responders [55.15 nmol/l (ranged 47.36 - 65.35 nmol/l) vs. 48.26 nmol/l (ranged 34.62 - 60.39 nmol/l), (p=0.808). In conclusion, sTfR level was significantly lower in AA cases than controls. The sTfR concentration expresses the erythropoietic activity in AA patients and can be an indicator of severity of bone marrow failure.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"42-49"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mariam Gamal, Ola El-Diwany, Sally S Abd Elhamed, Ahmed Elshafei, Reham Hammad
{"title":"Association of circulating Treg and plasma microRNA-21 with rheumatoid arthritis progression.","authors":"Mariam Gamal, Ola El-Diwany, Sally S Abd Elhamed, Ahmed Elshafei, Reham Hammad","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The etiology of rheumatoid arthritis (RA) is multifaceted. One of the hypothesized pathways that results in the progression of RA is regulatory T cell (Treg) dysfunction. The pro-osteoclastogenic and immunogenic characteristics of microribonucleic acid (microRNA)-21 (miR-21) suggest its role in RA progression. Hence, we investigated the significance of plasma miR-21 and Treg cell frequency as biomarkers for RA progression and assessed the link between miR-21 and Treg frequency in RA. This study enrolled 60 RA patients classified according to disease activity score 28-joint count with erythrocyte sediment rate (DAS28-ESR) to inactive cases (n = 30) and active cases (n = 30). Flow cytometer was used to assess Treg frequency. The Real-time quantitative PCR was used to measure the expression levels of miR-21 in plasma. When compared to the inactive group, the active group revealed significant up-regulation of miR-21 expression (p = 0.004) and down-regulation of Treg frequency (p < 0.001). While Treg frequency was negatively correlated, miR-21 fold change was positively correlated with DAS-28-ESR (r = -508, p < 0.001 and r = 0.334, p < 0.009, respectively). No correlation was detected between mirR-21 and Treg frequency. Treg distinguished the two groups at area under the curve (AUC) of 0.907 with 86.7% sensitivity and 73.3% specificity, whereas miR-21 up-regulation discriminated active from inactive RA patients at AUC of 0.717, with 83.3% sensitivity and 53.3% specificity. In conclusion, Treg frequency and miR-21 fold were differentially linked to DAS-28-ESR in RA. MiR-21 fold up-regulation changes and Treg frequency down-regulation can be suggested as biomarkers for RA activity.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"63-76"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mostafa E Mostafa, Morsy R M Geneedy, Ahmed M A Mohamed, Mohamed E Abo-Mandil, Fatma M El-Lessy
{"title":"Downregulation of proinflammatory cytokines and dynamic expression of TGF-β1 molecules induced by anti-IL-17 mAb in murine schistosomiasis mansoni.","authors":"Mostafa E Mostafa, Morsy R M Geneedy, Ahmed M A Mohamed, Mohamed E Abo-Mandil, Fatma M El-Lessy","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hepato-intestinal schistosomiasis is characterized by severe pathological changes at advanced chronic stages, including granulomatous lesions and liver fibrosis. The objective of our research was to assess the dynamic expression of profibrotic molecules, the transforming growth factor beta 1 (TGF-β1), and proinflammatory cytokines immunomodulation induced by interleukin 17 (IL-17) neutralization in murine Schistosomiasis mansoni. The study included 56 specific pathogen-free male C57BL/6 mice, divided into 3 main groups: GI uninfected normal controls, GII S. mansoni infected with 70±5 cercariae/non-treated, GIII S. mansoni infected and treated with anti-IL-17 monoclonal antibody (mAb), GIV S. mansoni infected and isotype-matched IgG2a mAb was given as a challenge. Mice were sacrificed at 6, 8, and 10 weeks after infection, then their liver enzymes and cytokines assessed, histopathological and immunohistochemical tested. The present study demonstrated a statistically significant elevation in serum levels of IL-17 (p < 0.01), TGF-β1 (p < 0.01), IL-1β (p≤0.001), IL-4 (p≤0.003), IL-6 (p≤0.05), and liver enzymes (ALT: p≤0.001; AST: p≤0.002). Additionally, granulomatous lesions and TGF-β1 expression were significantly increased (p < 0.001) in infected mice at 6, 8, and 10 weeks after infection. All showed significant reduction by neutralization with anti-IL-17 mAb. Finally, IL-17 exhibited potent profibrogenic activity, and anti-IL-17 mAb can be used to alleviate and counteract this impact in murine S. mansoni.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"16-26"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dalia A ElSherbiny, Samah A El Bakry, Sara A Abd El Rahman, Amr M Hawwash
{"title":"Autoimmune rheumatic manifestations in a cohort of Egyptian COVID-19 patients.","authors":"Dalia A ElSherbiny, Samah A El Bakry, Sara A Abd El Rahman, Amr M Hawwash","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The coronavirus disease 2019 (COVID-19) pandemic had significant global health impact. Like systemic autoimmune diseases, COVID-19 may manifest with systemic and heterogenous clinical presentations. This study aimed to evaluate the prevalence of autoimmune rheumatic manifestations among a cohort of Egyptian patients with COVID-19 infection. The study included 90 adult confirmed COVID-19 patients as determined by the polymerase chain reaction test. They were subjected to the following assessments: detailed medical history, full clinical and rheumatological examination, routine laboratory investigations, a panel of autoimmune markers, and high-resolution computed tomography chest. Then the patients studied were divided according to the positivity of autoimmune markers into positive and negative groups. According to the COVID-19 disease severity, patients were divided into mild, moderate, severe, and critical groups. The mean age of the study population was 54.60 ± 10.72 years, and 53.3% of them were females and 46.7% males. Of the patients studied 13.3% had positive antinuclear antibodies (ANA), 15.6% positive for rheumatoid factor (RF), 8.9% positive for anticardiolipin (ACL) IgM, and 5.6% positive for ACL IgG. The autoimmune markers were not statistically different however, all cases with positive ANA were present among severe and critical COVID-19 cases. All cases with positive RF, ACL IgM, or ACL IgG were found among moderate, severe, and critical patients. In conclusion, COVID-19 disease is associated with variable autoimmune manifestations. Autoimmune rheumatic manifestations, either clinical or autoimmune markers, are more evident in severe and critical COVID-19 cases. COVID-19 patients with positive ANA or RF are more likely to develop cutaneous, musculoskeletal, and vascular manifestations.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"105-115"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mai M Aly, Hanaa M Mohamed, Fatema A El-Osily, Eman R Badawy, Mohamed M Shehab, Mohammad H AbdEllah-Alaui, Dina A Hamad
{"title":"Using flow-cytometry in measuring platelet activity in type 2 diabetes and predicting macrovascular complications.","authors":"Mai M Aly, Hanaa M Mohamed, Fatema A El-Osily, Eman R Badawy, Mohamed M Shehab, Mohammad H AbdEllah-Alaui, Dina A Hamad","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Platelets are hyperactive in patients with type2 diabetes (T2DM), they adhere to vascular endothelium and play a key role in macrovascular complications. Platelets activity can be measured by flow-cytometry (cluster of differentiation (CD) 41, CD 42, CD 62, CD 63), which allows detection of surface antigens in a sensitive and specific manner. This study aimed to describe platelets activity in T2DM in association with cardiovascular and cerebrovascular complications in relation to duration of diabetes (DM). This was a case-control study with 130 participants (65 diabetic cases and 65 normal controls). All cases were subjected to history and clinical examination, base-line laboratory investigations and surface expression of platelets receptors e.g. CD 41% and mean fluorescent intensity (MFI), CD 42% and MFI, CD 62% and MFI, CD 63% and MFI were determined by flow-cytometry. There was a statistically significant higher expression of CD 62%, CD 62 MFI, CD 63% and CD 63 MFI (p < 0.001 for all) in diabetic cases compared to controls. There were significantly higher CD 62 %, CD 62 MFI, CD 63% and CD 63 MFI in cases with cardiovascular complications (p=0.001, p < 0.001, p=0.05 and p=0.007, respectively) and in cases with cerebrovascular complications compared to cases without complications (p=0.05, p=0.008, p=0.035, p=0.017, respectively). A significant positive correlation was found between glycated hemoglobin, body mass index and CD 62 %, CD 62 MFI and CD 63%. Using the receiver operating characteristic curve showed that CD 62 %, CD 62 MFI, CD 63 % and CD 63 MFI have a diagnostic ability to early predict DM (area under the curve (AUC)=0.998) as well as cardiovascular (AUC=0.855) and cerebrovascular (AUC=0.765) complications. In conclusion CD 62%, CD 62 MFI, CD 63% and CD 63 MFI markers have a diagnostic ability for early prediction of cardiovascular and cerebrovascular complications among diabetic patients.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"1-15"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heba H A Osman, Manal M Abd Al Aziz, Aya M M Yehia, Rawan M M Metwaly
{"title":"The Clinical utility of Interleukin-17A rs2275913 polymorphism with colorectal cancer in Egyptian patients.","authors":"Heba H A Osman, Manal M Abd Al Aziz, Aya M M Yehia, Rawan M M Metwaly","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The worldwide incidence of colorectal cancer (CRC) is roughly two million new instances each year throughout the world, according to the World Health Organization 2022. CRC is the third most prevalent disease and the second most common cancer in terms of fatality. People diagnosed with colorectal cancer in the early stages have a five-year survival rate of roughly 95%, but people identified with the disease in the later stages have a survival rate of approximately 12%. There are a number of variables that contribute to the development of CRC, these factors include both hereditary and environmental influences. We aimed to investigate the clinical utility of Interleukin (IL)-17A rs2275913 polymorphism to assess its association with CRC in Egyptian patients and the ability of using it as a non-invasive biomarker to assist in diagnosis of colorectal cancer. This case-control study included 75 subjects. Of these, 35 were CRC cases, 20 inflammatory bowel disease (IBD) patients and 20 normal control persons. Blood was collected and DNA extracted. The rs2275913 of IL-17A was genotyped using the Real-Time polymerase chain reaction (PCR). In CRC patient's group, (5.71%) had the homozygous AA genotype, (40%) the heterozygous GA genotype and (54.29%) the wild GG genotype. While in IBD group (15%) had the homozygous AA genotype, (40%) the heterozygous GA genotype and (45%) the wild GG genotype. In the normal control group, no one had the homozygous AA genotype, but (45%) had the heterozygous GA genotype and (55%) the wild type of GG genotype. However, there was no statistically significant substantial variation amongst the three groups (p>0.05). In conclusion, our study demonstrated no association of IL-17A rs2275913 with both CRC and IBD in the Egyptian population.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"92-104"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142972580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hanaa I Abd El-Hady, Enas I Abdelhady, Mai A Kamel
{"title":"Lupus disease activity state and Foxp3 gene polymorphism.","authors":"Hanaa I Abd El-Hady, Enas I Abdelhady, Mai A Kamel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The autoimmune disease systemic lupus erythematosus (SLE) is presented with many clinical symptoms. The transcription factor fork head box protein 3 (Foxp3) is expressed on regulatory T (T-reg) cells and essential for its development and function. Functional single-nucleotide polymorphisms (SNPs) in the Foxp3-3279 (rs3761548 C/A) gene influence SLE pathogenesis. We aimed to assess the relation between the functional polymorphism in Foxp3-3279 (rs3761548 C/A) gene and risk of SLE development and lupus disease activity state. This case-control study included SLE patients, diagnosed according to American College of Rheumatology/Systemic Lupus International Collaborating Clinics (ACR/SLICC) classification criteria. The degree of disease activity was assessed by Systemic Lupus Erythematosus Disease Activity Score (SLE-DAS). Foxp3-3279 (rs3761548 C/A) gene polymorphism was detected using the polymerase chain reaction restriction fragment length polymorphism-based analysis (PCR-RFLP). We found that AA and AC genotypes significantly increased the risk of SLE by 7.25 and 2.88 folds, respectively (p < 0.001) and A allele significantly increased that risk by 3.12 folds (p < 0.001). AA genotype significantly increased the risk of SLE moderate-severe disease activity and risk of lupus nephritis by 33.6 folds (p < 0.001). In conclusion, Foxp3 -3279 (rs3761548 C/A) gene polymorphism was associated with the risk of SLE and lupus nephritis. The relation of this SNP with SLE disease activity highlighted the role of Foxp3 gene in SLE pathogenesis and manifestations that could potentially enhance the management of SLE patients by identifying each person's unique response to treatment.</p>","PeriodicalId":39724,"journal":{"name":"The Egyptian journal of immunology / Egyptian Association of Immunologists","volume":"32 1","pages":"129-138"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}