[Show abstract][Hide abstract] ABSTRACT: Allergic rhinitis (AR) is an inflammatory disorder of the upper airway. T-helper (Th)2 cytokines seems to have major roles behind the scene of unpleasant symptoms resulted from AR. Expression of interleukin (IL)-4 and its receptor could be affected by single nucleotide polymorphisms (SNPs). This study assessed the effect of 4 genetic variants within genes of IL-4 and IL-4R in AR.
Allele frequencies of one IL-4R variant (rs1801275) and three SNPs of IL-4 (rs2243248, rs2243250, and rs2070874) were investigated in 98 patients with AR, compared to a group of controls, using PCR sequence-specific-primers (PCR-SSP) method.
Homozygosity for the C allele of rs2243250 in IL-4 was significantly overrepresented in the patient group. CC genotype in rs2070874 significantly was correlated with AR. GG/CC/CC and TT/TT/TT (rs2243248, rs2243250, and rs2070874) haplotypes in the IL-4 gene had a significant negative correlation with AR.
SNPs in IL-4 are associated with AR and could change the clinical picture of the disease in patients.
American journal of otolaryngology 09/2013; · 0.77 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: This study was performed to evaluate association of gene polymorphisms among proinflammatory cytokines and susceptibility to chronic idiopathic urticaria (CIU).
Ninety patients with prolonged urticaria more than 6 weeks were included as case group. Single nucleotide polymorphisms (SNPs) of IL-6 (G/C -174, G/A nt565) and TNF-α (G/A -308, G/A -238) were evaluated, using polymerase chain reaction (PCR); and the results were compared to the control group.
G allele was significantly higher in the patients at locus of -238 of promoter of TNF-α gene (p<0.001). Frequency of following genotypes were significantly lower in patients with CIU, compared to controls: AG at -308 and GA at -238 of TNF-α gene (p<0.05 and p<0.001, respectively), CG at -174 and GG at +565 of IL-6 gene (p<0.05). Additionally, following genotypes were more common among patients with CIU: GG at -308 and -238 of TNF-α gene (p<0.05 and p<0.001, respectively), GG at -174 and GA at +565 of IL-6 gene (p<0.05).
Pro-inflammatory cytokine gene polymorphisms can affect susceptibility to CIU. TNF-α promoter polymorphisms as well as IL-6 gene polymorphisms are associated with CIU.
Allergologia et Immunopathologia 09/2013; · 1.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Tumor necrosis factor-alpha (TNF-α) could be considered as potential biomarkers in atopic dermatitis (AD), while its level could be influenced by cytokine single gene polymorphisms (SNP). This study was performed in 89 pediatric patients with AD and 137 controls to assess polymorphisms of the TNF-α gene at positions -308 and -238, using the polymerase chain reaction and the sequence-specific primers method. The highest positive allelic association that made the patients susceptible to AD was seen for TNF-α -238/G (p<0.001) and TNF-α -308/G (p = 0.003). The GG genotypes at TNF-α -238 and TNF-α -308, were both significantly higher in the patients with AD, compared to the controls (p<0.01). The GG haplotype at TNF-α (-308,-238) was seen in 92.7% of the patients, which was significantly higher than the controls (p<0.001), while a negative haplotypic association with AD was seen for TNF-α (-308, -238) AG and GA (p<0.01). This study showed that the AG genotype of TNF-α -308, associated with a high production of cytokines, was significantly decreased in patients with AD, while the low-producing GG genotype, which could lead to low production of TNF-α, was over-expressed in the atopic patients.
[Show abstract][Hide abstract] ABSTRACT: Allergic rhinitis is a complex polygenic disorder of the upper respiratory tract. Given that proinflammatory cytokines such as tumor necrosis factor (TNF) and interleukin (IL) 1 seem to play a role in the development of allergic rhinitis, we evaluated the associations between various single-nucleotide polymorphisms (SNPs) of the TNF and IL1 genes in a case-control study.
The study population comprised 98 patients with allergic rhinitis. Genotyping was performed using polymerase chain reaction with sequence-specific primers for 2 TNFA promoter variants (rs1800629 and rs361525), 1 variant in the promoter region of IL1A (rs1800587), 2 SNPs in the IL1B gene (rs16944 and rs1 143634), 1 variant in the IL1 receptor (rs2234650), and 1 in IL1RA (rs315952).
Patients who were homozygous for the T allele of rs16944 in IL1B had an 8.1-fold greater risk of allergic rhinitis than those with the C allele. In TNFA, a significant relationship was also detected between rs1800629 and rs361525 and allergic rhinitis. Except for rs1800587 in IL1A and rs315952 in IL1RA, significant differences were found between the patient and control groups for all other SNPs.
We found that allelic variants in the TNFA and IL1 genes were not only associated with the risk of developing allergic rhinitis, but also affected disease course and severity.
Journal of investigational allergology & clinical immunology: official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología 01/2013; 23(7):455-61. · 1.89 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Atopic dermatitis (AD) is a chronic skin disorder of unknown origin that usually manifests for the first time in early infancy. Different types of genetic predisposition and environmental factors seem to be associated with the disease.
This study was performed to evaluate the frequency of alleles, genotypes, and haplotypes of interleukin (IL) 6 single-nucleotide polymorphisms (SNPs) at positions -174 and nt565 in 89 Iranian children with AD and 139 healthy controls.
The G allele was significantly more frequent at position -174 in IL6 in atopic patients than in the healthy controls (P < .001; OR, 2.82). Genotype GG was found at the same position in 71% of the patients; this frequency was significantly higher than the frequency of 30% recorded in the controls (P < .001; OR, 5.60). The GG haplotype of IL6 (-174, nt565) was significantly more frequent in the atopic patients than in the healthy controls (P < .001; OR, 2.99).
A significant increase in the frequency of the G allele and GG genotype at position -174 of IL6 was found in patients with AD, thus suggesting that production of this cytokine is greater in atopic patients.
Journal of investigational allergology & clinical immunology: official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología 01/2013; 23(2):89-93. · 1.89 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: Interleukin-1 (IL-1) seems to have an important role in early reactions towards microbes, while its genetic variability could affect this role in atopic patients who have a distressed immunity towards dermatological infections. METHODS: Eighty-nine patients with atopic dermatitis (AD), who were referred to a main referral paediatric hospital, were enrolled in this study. Single nucleotide polymorphisms (SNP) of the following IL-1 cluster genes were assessed in this group of patients: IL-1α -889, IL-1β -511, IL-1β +3962, IL-1R Pst-I 1970, and IL-1RA Mspa-I 11100. The results were compared with a group of 140 healthy subjects from the same region. RESULTS: Fourteen percent of the controls had TT homozygous genotype in IL-1R at position Pst-I 1970, while only 2% of the patients with AD had this genotype (p=0.005, OR: 0.14, 95%CI: 0.02-0.64). The CC homozygous genotype was the most common genotype in IL-1α position -889 and IL-1β at position +3962 in both groups of patients with AD and the controls, while the TC heterozygous genotype was the most common genotype in IL-1β at position -511 and IL-1R at position Pst-I 1970, with no significant difference between the two groups. CONCLUSIONS: This study showed a significant negative association in the IL-1R Mspa-I 11100 TT homozygous genotype in the patients with AD.
Allergologia et Immunopathologia 12/2012; · 1.23 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Common variable immunodeficiency (CVID) is a heterogeneous group of disorders with varied immunologic phenotypes and clinical manifestations. Patients with CVID are mainly characterized by decreased serum immunoglobulin levels, and increased susceptibility to recurrent bacterial infections, autoimmune disorders, and malignancies. Here we present a CVID patient who has developed a clinical polyclonal lymphocytic infiltration phenotype associated with severe and irreversible pancytopenia with unknown etiology. Progressive unilateral loss of vision and cytomegalovirus retinitis indicated the cause of patient's pancytopenia.
[Show abstract][Hide abstract] ABSTRACT: Primary immunodeficiency diseases (PIDs) consist of a group of genetic disorders that predispose the patients to immune-mediated complications. The aim of this study was to assess the knowledge of Iranian general practitioners and pediatricians about PIDs.A questionnaire consisting 52 closed questions on clinical symptoms, laboratory data, associated syndromes and management of PIDs patients was made valid and reliable by a pair pilot study. Then the questionnaire was filled by pediatricians, general practitioners and pediatric residents from different regions of Iran. Totally, 333 physicians (50 general practitioners, 52 pediatric residents, 182 pediatric specialists, and 49 pediatric sub specialists) participated in this study. The mean total score was 55.9±14.3 (i.e. about 29 correct answers out of 52 questions). One hundred and five participants (31.9%) answered correctly more than two third of all questions. In order to qualitatively compare the groups a ranking system was used. Total scores was significantly different between physicians groups (p<0.01). Pediatric subspecialties gained the highest rank, which was significantly over the other participants (p<0.05). This study showed that there is a considerable lack of awareness on PIDs in physicians. This may be one of the major reasons in late diagnosis and the delay in adequate treatment deteriorating patients' morbidity and mortality. Retraining classes and reconsidered educating schedules are needed as an efficient strategies and improving physicians' knowledge about PIDs.
Iranian journal of allergy, asthma, and immunology 03/2012; 11(1):57-64. · 0.65 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Asthma is one of the most common chronic inflammatory disorders in children. Nonadherence to medical therapy is a major cause of poor clinical outcome the objective of this study was evaluating factors, which are resulted in nonadherence to medical therapy in children with asthma.In this descriptive study, 150 children with asthma and nonadherent to medication therapy were enrolled. General information and probable causes of nonadherence were recorded in self-report questionnaire and data were analyzed. In our study, 57.3% of children were male. Approximately 43%of children belonged to age group 6-9 years old. Prevalence of probable causes of nonadherence to treatment were concern about treatment expenses(34.7%) ,fear of cardiac complications(34.7%), concern about drug dependency(38.7%), belief to growth inhibition(30.7%) and fear of osteopenia (32%). There was statistically significant reverse association between treatment with multi-drug regimens and concern about bone mineral abnormalities, cardiac complications and drug dependency (p=0.0001, 0.014 and 0.012 respectively). In addition, there was a significant association between mild asthma and fear about drug dependency (p=0.001).According to our results, factors such as prolonged duration of treatment, various therapeutic regimens, and receiving multiple drugs before diagnosis of asthma pose the highest frequencies for nonadherence.
Iranian journal of allergy, asthma, and immunology 03/2012; 11(1):23-7. · 0.65 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Although autoimmunity phenotype is surprisingly common in patients with different types of primary antibody deficiency, it is much less frequent in X-linked agammaglobulinemia (XLA). Herein, we report on a 15-month-old boy with XLA who also suffered from Kawasaki disease. The current case presentation is the first report of an association between Kawasaki disease and XLA. XLA could be considered as a special opportunity to understand autoimmunity in the near absence of immunoglobulins.
[Show abstract][Hide abstract] ABSTRACT: Common variable immunodeficiency (CVID) is the most common form of symptomatic primary immunodeficiency disease. It is characterized by hypogammaglobulinemia, increased predisposition to infections, autoimmunity, and cancer.
This study was performed to evaluate the clinical and immunological features of a group of pediatric patients with CVID.
The study population comprised 69 individuals with CVID diagnosed during childhood.
The patients were followed up for a mean (SD) period of 5.2 (4.3) years. The mean diagnostic delay was 4.4 (3.6) years, which was significantly lower in patients who were diagnosed recently. Children were classified according to 5 clinical phenotypes: infections only (n=39), polyclonal lymphocytic infiltration (n=17), autoimmunity (n=12), malignancy (n=7), and enteropathy (n=3). Postdiagnosis survival (10-year) was 71%.
The high percentages of pediatric patients with CVID in Iran may be due to the considerable prevalence of parental consanguinity in the region and an underlying genetic background.
Journal of investigational allergology & clinical immunology: official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología 01/2012; 22(3):208-14. · 1.89 Impact Factor
Journal of investigational allergology & clinical immunology: official organ of the International Association of Asthmology (INTERASMA) and Sociedad Latinoamericana de Alergia e Inmunología 01/2012; 22(1):78-9. · 1.89 Impact Factor