sara iranparast - Academia.edu (original) (raw)
Papers by sara iranparast
Iranian journal of immunology : IJI, 2020
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by variou... more Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES) and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of the immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state.
Introduction: Primary immunodeficiencies (PID) are a group of heterogeneous disorders of the immu... more Introduction: Primary immunodeficiencies (PID) are a group of heterogeneous disorders of the immune system that result in chronic, serious, and often life-threatening infections if they are not properly diagnosed and treated. Worldwide, from 70 to 90% of PID sufferers remain undiagnosed because of poor awareness. Purpose: The aim of this study was to assess the awareness of general physicians of and pediatricians about primary immunodeficiency disease in the city of Ahvaz. Materials and Methods: An 80-item questionnaire in 5 sections on clinical symptoms, associated diseases, and syndromes, family history, laboratory investigations, and management of PIDs patients was designed valid and reliable by a pilot study. Results: A total of 257 physicians (200 general practitioners and 57 pediatricians) participated in the study. The mean age of participants was 30.35±8.54 years (range 25-59) including 61.48% female and 38.52% of male. The mean overall knowledge score was 58.91±5.47% (49.31...
Asian Pacific journal of cancer prevention : APJCP, 2021
BACKGROUND Human cytomegalovirus (HCMV) is prevalent viral infection involved in several human ca... more BACKGROUND Human cytomegalovirus (HCMV) is prevalent viral infection involved in several human cancers including breast cancer. The presence of HCMV genome in breast cancer tissue and footprint of viral last exposure patient's serum are considered as important factor in the process of breast cancer development. OBJECTIVES This study aimed to investigate molecular and serological epidemiology of HCMV in patients with breast cancer in Iran for first time. METHODS In our case-control study, 98 samples of breast tissue, including 49 cancerous (case) and 49 adjacent non-cancerous tissue were collected (control). In addition, we collected sera samples from all patients (n=49) and healthy individual (n=49). Seroprevalence of HCMV was assessed by Enzyme-linked immunosorbent assay (ELISA) and detection of HCMV genome was performed using Nested-PCR method. RESULTS HCMV genome found in 16.3% (8/49) of cases tissue and 2% (1/49) of controls tissue. In patients group, the levels of anti-CMV ...
International immunopharmacology, 2021
Natural killer (NK) cells are involved in innate and acquired immunity, stimulating and enhancing... more Natural killer (NK) cells are involved in innate and acquired immunity, stimulating and enhancing immune responses via secretion of IFN-γ and TNF-α. NKG2D is among the most important NK's stimulant receptors, the ligands of which are elevated on cancerous and virus-infected cells. We analyzed effect of 5-ALA on gene expression and receptor presentation of NKG2D, which is present on peripheral blood NK cells. Mononuclear cells were isolated from the venous blood samples of healthy individuals. RNA extraction and cDNA synthesis were performed after exposure of samples to 5-ALA, and gene expression was evaluated using Real-Time PCR, and the receptor presence rate on the cell surface was evaluated by flow-cytometry analysis. The results showed the gene expression of NKG2D and the presence of its receptor on NK cells were increased.5-ALA can be used to activate NK cells in their killing activity, preventing the growth and metastasis of cancerous cells.
Leukemia inhibitory factor (LIF) is a multi-functional cytokine secreted from cells such as lymph... more Leukemia inhibitory factor (LIF) is a multi-functional cytokine secreted from cells such as lymphocytes and hepatocytes. This study aimed to evaluate the effect of LIF on natural killer group 2 member D (NKG2D) receptors' expression and presentation on natural killer (NK) cells. For this purpose, peripheral blood mononuclear cells taken from 4 young male healthy blood donors were isolated and the effect of LIF (25 ng/mL) after 12, 24, and 48 hours of incubation, on NKG2D receptors expression and presentation was investigated using flow cytometry and real-time-polymerase chain reaction (PCR). All of the steps of the experiment were performed in duplicate. After periods of 12, 24, and 48 hours, LIF reduced both the expression and presentation of the NKG2D receptor on NK cells. The results suggest that this cytokine has a direct modulating activity on the body's immune response through suppression of NKG2D receptor expression and presentation on NK cells.
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by variou... more Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES), and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state. Received: 2019-08-19, Revised: 2020-10-18, Accepted: 2020...
Journal of Clinical Immunology
Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than ... more Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (PID) is not elucidated. The current prospective study on a national registry of PID patients showed that with only 1.23 folds higher incidence of infections, these patients present a 10-folds higher mortality rate compared to population mainly in patients with combined immunodeficiency and immune dysregulation. Therefore, further management modalities against COVID-19 should be considered to improve the survival rate in these two PID entities using hematopoietic stem cell transplantation and immunomodulatory agents.
Current Cancer Drug Targets
: Several subtypes of T cells are located in a tumor environment, each of which supplies their en... more : Several subtypes of T cells are located in a tumor environment, each of which supplies their energy using different metabolic mechanisms. Since the cancer cells require high levels of glucose, the conditions of food poverty in the tumor environment can cause inactivation of immune cells, especially the T-effector cells, due to the need for glucose in the early stages of these cells activity. Different signaling pathways such as PI3K-AKt-mTOR, MAPK, HIF-1α, etc active or inactive by the amount and type of energy source or oxygen levels that determine the fate of T cells in a cancerous environment. This review describes the metabolites in the tumor environment and their effects on the function of T cells. It also explains the signaling pathway of T cells in the tumor and normal conditions, due to the level of access to available metabolites and subtypes of T cells in the tumor environment.
World Family Medicine Journal/Middle East Journal of Family Medicine, Sep 1, 2017
Multiple myeloma (MM), as one of a variety of autoimmune diseases, affects the immune system and,... more Multiple myeloma (MM), as one of a variety of autoimmune diseases, affects the immune system and, on the other hand, is considered to be a hematologic impairment. One of the most common and important complications of MM is renal impairment (RI), which is associated with an increase in serum Cr levels. Although RI is one of the major complications of MM, the routine therapies for MM patients practically lack acceptable efficacy for the improvement of RI patients, and as a result, RI remains a deadly disease with high mortality rate and very bad prognosis; therefore, new treatments have been proposed for the improvement of nephropathy in patients with MM, and extensive research is ongoing in various phases, including clinical trials. Attempts were made in this study to review common and advanced treatments (immunotherapy, cell therapy, new therapies based on genetic engineering) in these patients and to consider this disease from an immunological viewpoint.
Molecular Biology Reports
Important regulatory roles of long non-coding RNAs (lncRNAs) have been recently found, and report... more Important regulatory roles of long non-coding RNAs (lncRNAs) have been recently found, and reported as useful biomarkers in cancer. To identify a potential expression of the new discovered lncRNA (ARA), during promotes cell proliferation, apoptosis inhibit, migration and cell cycle arrest, we firstly evaluate its expression in two cancer tissues (breast cancer and liver cancer) and then compared its variability expression in tumor versus non-tumor samples. Expression profile of ARA lncRNA was evaluated using qRT-PCR in paired tumor and marginal non-tumor samples collected from patients who had been referred to the Shiraz General. After RNA extraction from tissue samples, cDNA synthesis and RT-qPCR method were performed according to the protocols. ARA lncRNA expression level was calculated using 2 −ΔΔCt method. Principalcomponent analysis followed by receiver operating characteristic curve analyses was performed to evaluate the diagnostic potential of selected lncRNA. Our data revealed a significant upregulation (P < 0.001) of ARA in breast and liver tumor tissues, in comparison to same patients non-tumor marginal samples. Also, there was a significant difference between the expression of ARA lncRNA in breast cancer and liver cancer patients (P < 0.05). In conclusion, the results of our study suggest a possible role of ARA lncRNA in proliferation of breast and liver tissues, as well as its potential usefulness as a novel diagnostic biomarker for breast and liver tumors.
Jundishapur Journal of Microbiology
Background: Diseases caused by Helicobacter pylori infection, including gastritis and gastric ulc... more Background: Diseases caused by Helicobacter pylori infection, including gastritis and gastric ulcer, can be harmful to epithelial cells in gastric mucosa. Furthermore, pro-inflammatory cytokines can affect the severity of some diseases caused by H. pylori infection. NLRP3 inflammasome detects H. pylori and activates caspase-1 that leads to the release of interleukin-1β (IL-1β) and interleukin-18 (IL-18) in the stomach. Objectives: Since genetic variations such as polymorphisms may be involved in the expression of genes, this study was conducted to investigate the effect of NLRP3 rs10754558 polymorphism in pathogenesis of H. pylori infection. Methods: Four hundred and sixty-four Iranian patients (300 patients infected with H. pylori and 164 patients uninfected with H. pylori) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Cytokine mRNA and protein expression were evaluated in patients infected with different genotypes of NLRP3 rs10754558 using real time-PCR and western blotting, respectively. Results: The NLRP3 rs10754558 gene polymorphism was not associated with H. pylori infection or diseases caused by this bacterium. It was found out that the level of IL-1β in patients infected was higher than the uninfected individuals. Moreover, no relation was found between these single nucleotide polymorphisms and cytokine expression in H. pylori infected subjects. The findings of this study show that NLRP3 rs10754558 polymorphism may be related to the severity of acute inflammation in these patients. Conclusions: Our findings show that rs10754558 polymorphism might not participate in regulating inflammation and immune responses in patients with H. pylori by influencing the expression of components of the NLRP3 inflammasome.
Iranian Journal of Allergy, Asthma and Immunology
Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency dis... more Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency disorder (PID) with less than 200 cases worldwide. Here, we report an 8 month–old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene (NM_001278728: exon 5: c.495G>A: p.Trp165*) and normal CD4+ T cell counts, diagnosed by whole exome sequencing (WES) and negative HLA–DR proteins on peripheral blood mononuclear cell (PBMC) in flow cytometry. She was referred with pneumonia, prolonged fever, resistance to antibiotics (ceftriaxone, clindamycin, and vancomycin), and low serum immunoglobulin (IG) levels, while natural killer (NK), B, and T cells were normal. She received intra-venous immune-globulin (IVIG) replacement, broad spectrum antibiotics, and anti-fungal treatments. The presented case report is interesting not only because of the rarity of the PID but also due to normal CD4+ T cell counts. According to our experience, we suggest that physicians consider M...
Asian Pacific Journal of Cancer Prevention Apjcp, 2014
Background: Today, leukemia is one of the biggest problems worldwide. The Wilms' tumor gene (WT1)... more Background: Today, leukemia is one of the biggest problems worldwide. The Wilms' tumor gene (WT1) and the vascular endothelial growth factor (VEGF) gene are highly expressed in patients with various cancers. This study concerned the relationship between expression of WT1 and VEGF in patients with acute leukemia. Materials and Methods: We evaluated expression of WT1 mRNA and VEGF mRNA using real-time quantitative RT-PCR in the peripheral blood (PB) of 8 newly diagnosed AML and 4 newly diagnosed ALL patients, serially monitored for 2 months. A further 12 normal PB samples served as controls. Results: In the patient group, in comparison with the normal ranges, WT1 and VEGF gene expression was increased, the average values for the expression of these two genes being 0.2852±0.11 and 0.2029±0.018, respectively. While was no significant relevance between the two genes pre-treatment, a positive link between the two genes in 75% of patients with AML was noted during the procedure of chemotherapy, whereas in 75% of patients with ALL an antiparallel association was observed. Conclusions: Leukemia is associated with production of WT1, which may affect the expression of VEGF.
Iranian Journal of Allergy, Asthma and Immunology
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associa... more Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patie...
Iranian journal of immunology : IJI, 2020
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by variou... more Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES) and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of the immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state.
Introduction: Primary immunodeficiencies (PID) are a group of heterogeneous disorders of the immu... more Introduction: Primary immunodeficiencies (PID) are a group of heterogeneous disorders of the immune system that result in chronic, serious, and often life-threatening infections if they are not properly diagnosed and treated. Worldwide, from 70 to 90% of PID sufferers remain undiagnosed because of poor awareness. Purpose: The aim of this study was to assess the awareness of general physicians of and pediatricians about primary immunodeficiency disease in the city of Ahvaz. Materials and Methods: An 80-item questionnaire in 5 sections on clinical symptoms, associated diseases, and syndromes, family history, laboratory investigations, and management of PIDs patients was designed valid and reliable by a pilot study. Results: A total of 257 physicians (200 general practitioners and 57 pediatricians) participated in the study. The mean age of participants was 30.35±8.54 years (range 25-59) including 61.48% female and 38.52% of male. The mean overall knowledge score was 58.91±5.47% (49.31...
Asian Pacific journal of cancer prevention : APJCP, 2021
BACKGROUND Human cytomegalovirus (HCMV) is prevalent viral infection involved in several human ca... more BACKGROUND Human cytomegalovirus (HCMV) is prevalent viral infection involved in several human cancers including breast cancer. The presence of HCMV genome in breast cancer tissue and footprint of viral last exposure patient's serum are considered as important factor in the process of breast cancer development. OBJECTIVES This study aimed to investigate molecular and serological epidemiology of HCMV in patients with breast cancer in Iran for first time. METHODS In our case-control study, 98 samples of breast tissue, including 49 cancerous (case) and 49 adjacent non-cancerous tissue were collected (control). In addition, we collected sera samples from all patients (n=49) and healthy individual (n=49). Seroprevalence of HCMV was assessed by Enzyme-linked immunosorbent assay (ELISA) and detection of HCMV genome was performed using Nested-PCR method. RESULTS HCMV genome found in 16.3% (8/49) of cases tissue and 2% (1/49) of controls tissue. In patients group, the levels of anti-CMV ...
International immunopharmacology, 2021
Natural killer (NK) cells are involved in innate and acquired immunity, stimulating and enhancing... more Natural killer (NK) cells are involved in innate and acquired immunity, stimulating and enhancing immune responses via secretion of IFN-γ and TNF-α. NKG2D is among the most important NK's stimulant receptors, the ligands of which are elevated on cancerous and virus-infected cells. We analyzed effect of 5-ALA on gene expression and receptor presentation of NKG2D, which is present on peripheral blood NK cells. Mononuclear cells were isolated from the venous blood samples of healthy individuals. RNA extraction and cDNA synthesis were performed after exposure of samples to 5-ALA, and gene expression was evaluated using Real-Time PCR, and the receptor presence rate on the cell surface was evaluated by flow-cytometry analysis. The results showed the gene expression of NKG2D and the presence of its receptor on NK cells were increased.5-ALA can be used to activate NK cells in their killing activity, preventing the growth and metastasis of cancerous cells.
Leukemia inhibitory factor (LIF) is a multi-functional cytokine secreted from cells such as lymph... more Leukemia inhibitory factor (LIF) is a multi-functional cytokine secreted from cells such as lymphocytes and hepatocytes. This study aimed to evaluate the effect of LIF on natural killer group 2 member D (NKG2D) receptors' expression and presentation on natural killer (NK) cells. For this purpose, peripheral blood mononuclear cells taken from 4 young male healthy blood donors were isolated and the effect of LIF (25 ng/mL) after 12, 24, and 48 hours of incubation, on NKG2D receptors expression and presentation was investigated using flow cytometry and real-time-polymerase chain reaction (PCR). All of the steps of the experiment were performed in duplicate. After periods of 12, 24, and 48 hours, LIF reduced both the expression and presentation of the NKG2D receptor on NK cells. The results suggest that this cytokine has a direct modulating activity on the body's immune response through suppression of NKG2D receptor expression and presentation on NK cells.
Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by variou... more Combined immunodeficiencies (CIDs) are a heterogeneous group of disorders characterized by various gene mutations. The mutations in the STK4 (Serine Threonine Kinase 4) gene, which has a role in the regulation of apoptosis and proliferation, can be a cause of immunodeficiency. In the current paper, we reported a case of identical twin brothers with a novel STK4 mutation, one of whom showed clinical manifestations associated with this mutation with a delay of two years. The mutation in the STK4 gene was identified employing Whole Exome Sequencing (WES), and we described the probable reasons for this delay. We found that the STK4 genetic defect caused almost the same clinical symptoms of immunodeficiency in the twin brothers. Meanwhile, the severity of the disease was higher in one of them, which may be due to extra genetic defect in LRBA, and likely differences in the percentage of B lymphocyte population and CD4+/ CD8+ state. Received: 2019-08-19, Revised: 2020-10-18, Accepted: 2020...
Journal of Clinical Immunology
Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than ... more Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (PID) is not elucidated. The current prospective study on a national registry of PID patients showed that with only 1.23 folds higher incidence of infections, these patients present a 10-folds higher mortality rate compared to population mainly in patients with combined immunodeficiency and immune dysregulation. Therefore, further management modalities against COVID-19 should be considered to improve the survival rate in these two PID entities using hematopoietic stem cell transplantation and immunomodulatory agents.
Current Cancer Drug Targets
: Several subtypes of T cells are located in a tumor environment, each of which supplies their en... more : Several subtypes of T cells are located in a tumor environment, each of which supplies their energy using different metabolic mechanisms. Since the cancer cells require high levels of glucose, the conditions of food poverty in the tumor environment can cause inactivation of immune cells, especially the T-effector cells, due to the need for glucose in the early stages of these cells activity. Different signaling pathways such as PI3K-AKt-mTOR, MAPK, HIF-1α, etc active or inactive by the amount and type of energy source or oxygen levels that determine the fate of T cells in a cancerous environment. This review describes the metabolites in the tumor environment and their effects on the function of T cells. It also explains the signaling pathway of T cells in the tumor and normal conditions, due to the level of access to available metabolites and subtypes of T cells in the tumor environment.
World Family Medicine Journal/Middle East Journal of Family Medicine, Sep 1, 2017
Multiple myeloma (MM), as one of a variety of autoimmune diseases, affects the immune system and,... more Multiple myeloma (MM), as one of a variety of autoimmune diseases, affects the immune system and, on the other hand, is considered to be a hematologic impairment. One of the most common and important complications of MM is renal impairment (RI), which is associated with an increase in serum Cr levels. Although RI is one of the major complications of MM, the routine therapies for MM patients practically lack acceptable efficacy for the improvement of RI patients, and as a result, RI remains a deadly disease with high mortality rate and very bad prognosis; therefore, new treatments have been proposed for the improvement of nephropathy in patients with MM, and extensive research is ongoing in various phases, including clinical trials. Attempts were made in this study to review common and advanced treatments (immunotherapy, cell therapy, new therapies based on genetic engineering) in these patients and to consider this disease from an immunological viewpoint.
Molecular Biology Reports
Important regulatory roles of long non-coding RNAs (lncRNAs) have been recently found, and report... more Important regulatory roles of long non-coding RNAs (lncRNAs) have been recently found, and reported as useful biomarkers in cancer. To identify a potential expression of the new discovered lncRNA (ARA), during promotes cell proliferation, apoptosis inhibit, migration and cell cycle arrest, we firstly evaluate its expression in two cancer tissues (breast cancer and liver cancer) and then compared its variability expression in tumor versus non-tumor samples. Expression profile of ARA lncRNA was evaluated using qRT-PCR in paired tumor and marginal non-tumor samples collected from patients who had been referred to the Shiraz General. After RNA extraction from tissue samples, cDNA synthesis and RT-qPCR method were performed according to the protocols. ARA lncRNA expression level was calculated using 2 −ΔΔCt method. Principalcomponent analysis followed by receiver operating characteristic curve analyses was performed to evaluate the diagnostic potential of selected lncRNA. Our data revealed a significant upregulation (P < 0.001) of ARA in breast and liver tumor tissues, in comparison to same patients non-tumor marginal samples. Also, there was a significant difference between the expression of ARA lncRNA in breast cancer and liver cancer patients (P < 0.05). In conclusion, the results of our study suggest a possible role of ARA lncRNA in proliferation of breast and liver tissues, as well as its potential usefulness as a novel diagnostic biomarker for breast and liver tumors.
Jundishapur Journal of Microbiology
Background: Diseases caused by Helicobacter pylori infection, including gastritis and gastric ulc... more Background: Diseases caused by Helicobacter pylori infection, including gastritis and gastric ulcer, can be harmful to epithelial cells in gastric mucosa. Furthermore, pro-inflammatory cytokines can affect the severity of some diseases caused by H. pylori infection. NLRP3 inflammasome detects H. pylori and activates caspase-1 that leads to the release of interleukin-1β (IL-1β) and interleukin-18 (IL-18) in the stomach. Objectives: Since genetic variations such as polymorphisms may be involved in the expression of genes, this study was conducted to investigate the effect of NLRP3 rs10754558 polymorphism in pathogenesis of H. pylori infection. Methods: Four hundred and sixty-four Iranian patients (300 patients infected with H. pylori and 164 patients uninfected with H. pylori) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Cytokine mRNA and protein expression were evaluated in patients infected with different genotypes of NLRP3 rs10754558 using real time-PCR and western blotting, respectively. Results: The NLRP3 rs10754558 gene polymorphism was not associated with H. pylori infection or diseases caused by this bacterium. It was found out that the level of IL-1β in patients infected was higher than the uninfected individuals. Moreover, no relation was found between these single nucleotide polymorphisms and cytokine expression in H. pylori infected subjects. The findings of this study show that NLRP3 rs10754558 polymorphism may be related to the severity of acute inflammation in these patients. Conclusions: Our findings show that rs10754558 polymorphism might not participate in regulating inflammation and immune responses in patients with H. pylori by influencing the expression of components of the NLRP3 inflammasome.
Iranian Journal of Allergy, Asthma and Immunology
Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency dis... more Major histocompatibility complex (MHC) class II deficiency is a rare primary immunodeficiency disorder (PID) with less than 200 cases worldwide. Here, we report an 8 month–old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene (NM_001278728: exon 5: c.495G>A: p.Trp165*) and normal CD4+ T cell counts, diagnosed by whole exome sequencing (WES) and negative HLA–DR proteins on peripheral blood mononuclear cell (PBMC) in flow cytometry. She was referred with pneumonia, prolonged fever, resistance to antibiotics (ceftriaxone, clindamycin, and vancomycin), and low serum immunoglobulin (IG) levels, while natural killer (NK), B, and T cells were normal. She received intra-venous immune-globulin (IVIG) replacement, broad spectrum antibiotics, and anti-fungal treatments. The presented case report is interesting not only because of the rarity of the PID but also due to normal CD4+ T cell counts. According to our experience, we suggest that physicians consider M...
Asian Pacific Journal of Cancer Prevention Apjcp, 2014
Background: Today, leukemia is one of the biggest problems worldwide. The Wilms' tumor gene (WT1)... more Background: Today, leukemia is one of the biggest problems worldwide. The Wilms' tumor gene (WT1) and the vascular endothelial growth factor (VEGF) gene are highly expressed in patients with various cancers. This study concerned the relationship between expression of WT1 and VEGF in patients with acute leukemia. Materials and Methods: We evaluated expression of WT1 mRNA and VEGF mRNA using real-time quantitative RT-PCR in the peripheral blood (PB) of 8 newly diagnosed AML and 4 newly diagnosed ALL patients, serially monitored for 2 months. A further 12 normal PB samples served as controls. Results: In the patient group, in comparison with the normal ranges, WT1 and VEGF gene expression was increased, the average values for the expression of these two genes being 0.2852±0.11 and 0.2029±0.018, respectively. While was no significant relevance between the two genes pre-treatment, a positive link between the two genes in 75% of patients with AML was noted during the procedure of chemotherapy, whereas in 75% of patients with ALL an antiparallel association was observed. Conclusions: Leukemia is associated with production of WT1, which may affect the expression of VEGF.
Iranian Journal of Allergy, Asthma and Immunology
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associa... more Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patie...