A5038784422- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Autoimmune and Inflammatory Disorders Research
- T-cell and B-cell Immunology
- Inflammasome and immune disorders
- Blood disorders and treatments
- Malaria Research and Control
- RNA modifications and cancer
- Infectious Encephalopathies and Encephalitis
- Genomics and Rare Diseases
- Erythrocyte Function and Pathophysiology
- Pediatric health and respiratory diseases
- COVID-19 Clinical Research Studies
- Epigenetics and DNA Methylation
- Diabetes and associated disorders
- Epilepsy research and treatment
- Rheumatoid Arthritis Research and Therapies
- Bacterial Infections and Vaccines
- Immunotherapy and Immune Responses
- Platelet Disorders and Treatments
- Multiple Sclerosis Research Studies
- Chemokine receptors and signaling
- IL-33, ST2, and ILC Pathways
- Immune Response and Inflammation
- Otitis Media and Relapsing Polychondritis
Children's Medical Center
2015-2023
Tehran University of Medical Sciences
2014-2023
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
2018-2023
St Anna Children's Hospital
2020-2023
St. Anna Children's Cancer Research Institute
2020-2023
CeMM Research Center for Molecular Medicine
2020-2023
Austrian Academy of Sciences
2018-2023
Education and Research Network
2017-2022
Universal Scientific Education and Research Network
2016-2021
Shiraz University of Medical Sciences
2016
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form hyper-immunoglobulin E syndrome (HIES). We describe patients with recessive HIES due to loss-of-function a previously uncharacterized gene, ZNF341 is factor that resides in the nucleus, where it binds specific DNA motif present various genes, including STAT3 promoter. The patients' cells have low basal levels mRNA protein. autoinduction...
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In malaria endemic areas, continuous exposure to Plasmodium parasites leads asymptomatic carriers that provide a fundamental reservoir of parasites, contributing the persistence transmission. Therefore, in present investigation, presence and prevalence cases were determined evaluate infection two areas with previous history transmission south Iran, Bashagard Ghale-Ganj districts Hormozgan Kerman provinces, respectively, where has been drastically reduced recent years.The population samples...
HEM1 deficiency causes heritable autoimmunity and immunodeficiency.
WHIM syndrome ( Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome), a type of severe congenital neutropenia (SCN), involves Infections, as its main components clinical presentation, which results from mutations in the C-X-C chemokine receptor 4 (CXCR4) gene. Here, we present an Iranian 4-year-old girl with without warts normal bone marrow examination, lacking evidence myelokathexis. Whole Exome Sequencing (WES) was performed for patient. Subsequently, Sanger...
Helios, encoded by IKZF2, is a member of the Ikaros family transcription factors with pivotal roles in T-follicular helper, NK- and T-regulatory cell physiology. Somatic IKZF2 mutations are frequently found lymphoid malignancies. Although germline IKZF1 IKZF3 encoding Aiolos have recently been identified patients phenotypically similar immunodeficiency syndromes, effect on human hematopoiesis immunity remains enigmatic. We (one nonsense (p.R291X)- 4 distinct missense variants) six systemic...
A homozygous mutation in IKZF2 disrupts the interactions of Helios with epigenetic remodelers, leading to impaired T cell activation.
Increasing evidence links genetic defects affecting actin-regulatory proteins to diseases with severe autoimmunity and autoinflammation, yet the underlying molecular mechanisms are poorly understood. Dedicator of cytokinesis 11 (DOCK11) activates small Rho guanosine triphosphatase (GTPase) cell division cycle 42 (CDC42), a central regulator actin cytoskeleton dynamics. The role DOCK11 in human immune-cell function disease remains unknown.We conducted genetic, immunologic, assays four...
The present study was performed to investigate the effects of dimethylfumarate (DMF) and methylhydrogen fumarate (MHF) on cytokine pattern peripheral blood mononuclear cells (PBMCs) multiple sclerosis (MS) patients. PBMCs from patients healthy controls were stimulated with myelin basic protein (MBP) or phytohemagglutinin (PHA) cultured in presence DMF MHF. percentage CD4+IL-4+ CD4+IFN-γ+ determined by means intracellular staining. significantly increased MHF when MBP (P < 0.003). same...
Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe 33-year-old man who experienced refractory candidiasis, recurrent otitis media, pneumonia resulting bronchiectasis, severe oral esophageal candidiases with strictures associated hypothyroidism immune hemolytic anemia. His son also...
As of importance interleukin-4 (IL-4) in inhibiting the production proinflammatory cytokines, IL4 gene polymorphisms were investigated patients with febrile seizure. This association has not been yet, except 1 study which done Japanese population. Eighty-two seizure enrolled this study, compared 139 controls. The allele and genotype frequency 3 single-nucleotide determined. Frequency IL4-590/C patient group was significantly higher than control ( P < .0001). following genotypes lower to...
Coronavirus disease 2019 (COVID-19) pandemic is a global challenge. Several governments of the world have decided to take drastic actions in order combat spread disease, including closing air, maritime and land borders, as an extreme measure isolation each country/region. However, such measures had not prevented from spreading globally; COVID-19 has already almost all countries. This virus's main victims are healthcare personnel (HCP), who physically psychologically affected. The HCP serves...
Interleukin-1 (IL-1) plays a key role in inflammation, has an effect on wide variety of cells, and often leads to tissue destruction. While the ratio between IL-1 IL-1Ra could influence development different diseases central nervous system, its gene polymorphisms were investigated group patients with febrile seizures. Ninety seizures enrolled compared 140 controls. The allele genotype frequency single nucleotide within IL-1α, β, R determined. IL-1Ra/C at position Mspa-I 11100 was decreased...
OBJECTIVES: The aim of this study is to identify the associations between interleukin 10 (IL-10) and transforming growth factor beta 1 (TGF-β1) gene polymorphisms individual susceptibility juvenile idiopathic arthritis (JIA) in a group Iranian patients.BACKGROUND: Cytokine genes, including IL-10 TGF-β1, are known play important roles pathogenesis JIA.METHODS: Using polymerase chain reaction with sequence-specifi c primers method, frequency alleles, genotypes haplotypes (positions -1082,...
The nuclear factor of activated T cells (NFAT) family transcription factors plays central roles in adaptive immunity murine models; however, their contribution to human immune homeostasis remains poorly defined. In a multigenerational pedigree, we identified 3 patients who carry germ line biallelic missense variants NFATC1, presenting with recurrent infections, hypogammaglobulinemia, and decreased antibody responses. compound heterozygous NFATC1 these caused stability reduced the binding DNA...
The C-terminal region of Plasmodium falciparum merozoite surface protein-1 (PfMSP-1(19)) is a leading malaria vaccine candidate antigen. However, the existence different variants this antigen can limit efficacy development based on protein. Therefore, in study, main objective was to define frequency PfMSP-1(19) haplotypes hypoendemic Iran and also analyse cross-reactive and/or variant-specific antibody responses four variant forms.The genotyped 50 infected subjects with P. collected during...