Publications by authors named "Mojdeh Matloubi"

4 Publications

  • Page 1 of 1

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.

Expert Rev Clin Immunol 2021 Jun 3:1-11. Epub 2021 Jun 3.

Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.

: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare inborn immune error characterized by a triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (ADI).: Literature search was conducted in PubMed, Web of Science, and Scopus databases using related keywords, and included studies were systematically evaluated.: We reviewed 938 APECED patients and the classic triad of APECED was detected in 57.3% (460 of 803) of patients. CMC (82.5%) was reported as the earliest, HP (84.2%) as the most prevalent, and ADI (72.2%) as the latest presentation within the classic triad. A broad spectrum of non-triad involvements has also been reported; mainly included ectodermal dystrophy (64.5%), infections (58.7%), gastrointestinal disorders (52.0%), gonadal failure (42.0%), neurologic involvements (36.4%), and ocular manifestations (34.3%). A significant positive correlation was detected between certain tissue-specific autoantibodies and particular manifestations including ADI and HP. Neutralizing autoantibodies were detected in at least 60.0% of patients. Nonsense and/or frameshift insertion-deletion mutations were detected in 73.8% of patients with CMC, 70.9% of patients with HP, and 74.6% of patients with primary ADI.: Besides penetrance diversity, our review revealed a diverse affected ethnicity (mainly from Italy followed by Finland and Ireland). APECED can initially present in adolescence as 5.2% of the patients were older than 18 years at the disease onset. According to the variety of clinical conditions, which in the majority of patients appear gradually over time, clinical management deserves a separate analysis.
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http://dx.doi.org/10.1080/1744666X.2021.1925543DOI Listing
June 2021

Association between Two Single Nucleotide Polymorphisms of Thymic Stromal Lymphopoietin (TSLP) Gene and Asthma in Iranian Population.

Iran J Allergy Asthma Immunol 2020 Aug 25;19(4):362-372. Epub 2020 Aug 25.

Department of Biostatistics, School of Public Health, Iran University of Medical Science, Tehran, Iran.

Thymic stromal lymphopoietin (TSLP) is a cytokine similar to IL-7, which is released by airway epithelial cells in response to injury and inflammation. Current literature is contradictory about the association between different single nucleotide polymorphisms (SNPs) of the TSLP gene and asthma development in different countries. We aimed to evaluate the association between two common TSLP SNPs (rs2289276 and rs2289278) and the risk of asthma in the Iranian population. Genotyping of the TSLP gene was performed in 126 adult asthmatic patients and 300 controls; using the TaqMan genotyping assay. Moreover, total serum IgE level and eosinophil count were assessed. The results indicated that the TT genotype of rs2289276 was inversely associated with the risk of asthma (p=0.002). A similar inverse association was detected in subgroups of atopic (p=0.001) and non-atopic (p=0.005) asthma. Moreover, the TT genotype of this SNP was more prevalent in severe and late-onset categories of asthma. In subgroup analysis, a significant sex-specific association between rs2290276 and asthma was observed in women (p=0.004). The prevalence of rs2289276 was extremely low, which made it infeasible to perform any further analysis. Overall, our findings indicated that rs2290276 SNP of the TSLP gene has a protective phenotype against asthma development in the Iranian population.
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http://dx.doi.org/10.18502/ijaai.v19i4.4111DOI Listing
August 2020

Molecular contribution of BRCA1 and BRCA2 to genome instability in breast cancer patients: review of radiosensitivity assays.

Biol Proced Online 2020 1;22:23. Epub 2020 Oct 1.

Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran.

Background: DNA repair pathways, cell cycle arrest checkpoints, and cell death induction are present in cells to process DNA damage and prevent genomic instability caused by various extrinsic and intrinsic ionizing factors. Mutations in the genes involved in these pathways enhances the ionizing radiation sensitivity, reduces the individual's capacity to repair DNA damages, and subsequently increases susceptibility to tumorigenesis.

Body: BRCA1 and BRCA2 are two highly penetrant genes involved in the inherited breast cancer and contribute to different DNA damage pathways and cell cycle and apoptosis cascades. Mutations in these genes have been associated with hypersensitivity and genetic instability as well as manifesting severe radiotherapy complications in breast cancer patients. The genomic instability and DNA repair capacity of breast cancer patients with BRCA1/2 mutations have been analyzed in different studies using a variety of assays, including micronucleus assay, comet assay, chromosomal assay, colony-forming assay, γ -H2AX and 53BP1 biomarkers, and fluorescence in situ hybridization. The majority of studies confirmed the enhanced spontaneous & radiation-induced radiosensitivity of breast cancer patients compared to healthy controls. Using G2 micronucleus assay and G2 chromosomal assay, most studies have reported the lymphocyte of healthy carriers with BRCA1 mutation are hypersensitive to invitro ionizing radiation compared to non-carriers without a history of breast cancer. However, it seems this approach is not likely to be useful to distinguish the BRCA carriers from non-carrier with familial history of breast cancer.

Conclusion: In overall, breast cancer patients are more radiosensitive compared to healthy control; however, inconsistent results exist about the ability of current radiosensitive techniques in screening BRCA1/2 carriers or those susceptible to radiotherapy complications. Therefore, developing further radiosensitivity assay is still warranted to evaluate the DNA repair capacity of individuals with BRCA1/2 mutations and serve as a predictive factor for increased risk of cancer mainly in the relatives of breast cancer patients. Moreover, it can provide more evidence about who is susceptible to manifest severe complication after radiotherapy.
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http://dx.doi.org/10.1186/s12575-020-00133-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528506PMC
October 2020

The Impact of Interleukin (IL)-33 Gene Polymorphisms and Environmental Factors on Risk of Asthma in the Iranian Population.

Lung 2020 02 9;198(1):105-112. Epub 2019 Dec 9.

Department of Biostatistics, School of Public Health, Iran University of Medical Science, Tehran, Iran.

Background: Airway epithelial cells secrete Interleukin-33 in response to the different allergens. Several single nucleotide polymorphisms (SNP) of this cytokine have been reported to be involved in the development of asthma. We conducted this study to evaluate the impact of the two most common SNPs of the IL-33 gene (rs1342326 and rs3939286) and environmental factors on the susceptibility to asthma in the Iranian population.

Subjects And Methods: In this study, we enrolled 126 asthmatics patients and 300 age, sex-matched controls. Genotyping was performed by real-time PCR using the TaqMan SNP genotyping assay. Moreover, total serum IgE level, eosinophil count, and skin prick test were accomplished and complete history was taken from all the participants.

Results: The frequencies of mutant genotypes in both SNPs were significantly higher in asthmatics than controls. C/C genotype of rs1342326 [OR (95% CI) 2.50 (1.33-4.69)] and A/A genotype of rs3939286 [OR (95% CI) 2.18 (1.05-4.52)] were associated with higher risk of asthma development. While A/C+C/C genotype of rs1342326 was more prevalent in mild asthma [OR (95% CI) 2.36 (1.14-4.89)], G/A+A/A genotype of rs3939286 was associated with increased risk of moderate and severe asthma [OR (95% CI) 2.53 (1.30-4.94)].

Conclusion: This study revealed that both IL-33 SNPs were associated with an increased risk of asthma. The rs1342326 was associated with atopic, mild and adult-onset asthma and a higher level of eosinophils in peripheral blood. However, rs3939286 was more frequent in moderate and severe asthma. Moreover, rs3939286 was associated with non-atopic and childhood-onset asthma.
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http://dx.doi.org/10.1007/s00408-019-00301-9DOI Listing
February 2020