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1.
Pediatr Allergy Immunol ; 32(6): 1335-1348, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33774840

RESUMO

BACKGROUND: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations. METHODS: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. RESULTS: A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study. Overall, 331 patients (72.1%) were born to consanguineous parents. At the time of the study, 330 individuals (75.7%) were alive and 106 (24.3%) were deceased. Autoimmunity was reported in 92 (20.0%) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0-7.0) years. Sixteen patients (3.5%) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0%), ATM (in 13 patients, 14.0%), and BTK (in 9 patients, 10.0%) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100%), 3 of 3 AIRE (100%), and 21 of 30 LRBA (70.0%) mutated genes had the highest prevalence of autoimmunity. CONCLUSIONS: Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next-generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease.


Assuntos
Doenças Autoimunes , Imunodeficiência de Variável Comum , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/genética , Autoimunidade/genética , Criança , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Irã (Geográfico)/epidemiologia , Masculino , Estudos Retrospectivos , Adulto Jovem
2.
Int Arch Allergy Immunol ; 181(9): 706-714, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32615565

RESUMO

BACKGROUND: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis. METHODS: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Whole-exome sequencing and confirmatory Sanger sequencing methods were used for the study population. A questionnaire was retrospectively filled for all patients to evaluate demographic, laboratory, clinical, and genetic data. RESULTS: In the 27 studied patients, 11 different genetic defects were identified, and the most common mutated gene was LRBA, reported in 17 (63.0%) patients. Two patients (7.7%) showed autoimmune complications as the first presentation of immunodeficiency. Eleven patients (40.7%) developed one type of autoimmunity, and 16 patients (59.3%) progressed to poly-autoimmunity. Most of the patients with mono-autoimmunity (n = 9, 90.0%) primarily developed infectious complications, while in patients with poly-autoimmunity, the most common first presentation was enteropathy (n = 6, 37.6%). In 13 patients (61.9%), the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency. The most frequent autoimmune manifestations were hematologic (40.7%), gastrointestinal (48.1%), rheumatologic (25.9%), and dermatologic (22.2%) disorders. Patients with poly-autoimmunity had lower regulatory T cells than patients with mono-autoimmunity. CONCLUSION: In our cohort, the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency in most patients. This association highlights the fact that patients referring with autoimmune manifestations should be evaluated for humoral immunity.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Doenças Autoimunes/genética , Imunodeficiência de Variável Comum/genética , Síndromes de Imunodeficiência/genética , Mutação/genética , Adolescente , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/epidemiologia , Autoimunidade/genética , Criança , Estudos de Coortes , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/epidemiologia , Diagnóstico Tardio , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/epidemiologia , Irã (Geográfico)/epidemiologia , Masculino , Sequenciamento do Exoma , Adulto Jovem
3.
J Clin Lab Anal ; 34(1): e23039, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31541492

RESUMO

BACKGROUND: Vitamin D (Vit D) function in asthma progression has been studied well. The effects of genetic variations in Vit D pathway molecules have been also studied, although the results are contradicted. In the present study, for the first time we examined the Vit D pathway molecules included serum Vit D and vitamin D-binding protein (VDBP) and also genetic variations in the vitamin D receptor (VDR) and VDBP in a Kurdish population with asthma. METHODS: An enzyme-linked immunosorbent assay (ELISA) method was used to measure the serum Vit D and VDBP. VDR rs1544410 and rs2228570 and VDBP rs7041 were assessed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The serum level of Vit D significantly decreased in asthmatic patients versus controls (16.26 ± 6.76 vs 23.05 ± 10.57 ng/mL, P value = .001). We observed an indirect correlation between Vit D and clinical findings. We also found an increased level of serum VDBP in patients as compared to the controls (1044.6 ± 310.82 vs 545.95 ± 121.73 µg/mL, P value < .0001). Besides, the risk of asthma progression was increased in patients with the VDR rs2228570 CC and VDBP rs7041 GG genotypes (OR = 3.56, P = .0382 and OR = 2.58, P = .01, respectively). CONCLUSION: In summary, our results explain the influence of the genetic variations in VDR and VDBP in addition to Vit D and VDBP serum concentrations on asthma susceptibility in the Kurdish population.


Assuntos
Asma/genética , Predisposição Genética para Doença , Vitamina D/genética , Adulto , Asma/sangue , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Masculino , Vitamina D/sangue , Proteína de Ligação a Vitamina D/sangue
4.
J Allergy Clin Immunol ; 141(4): 1450-1458, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-28916186

RESUMO

BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. RESULTS: The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. CONCLUSIONS: This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients.


Assuntos
Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/imunologia , Adolescente , Criança , Pré-Escolar , Consanguinidade , Feminino , Genes Recessivos/genética , Genes Recessivos/imunologia , Predisposição Genética para Doença/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Síndromes de Imunodeficiência/mortalidade , Lactente , Irã (Geográfico) , Síndrome de Job/genética , Síndrome de Job/imunologia , Síndrome de Job/mortalidade , Masculino , Mutação/genética , Mutação/imunologia , Fenótipo , Estudos Retrospectivos , Fator de Transcrição STAT3/genética , Fator de Transcrição STAT3/imunologia , Análise de Sequência de DNA/métodos , Taxa de Sobrevida
5.
Mol Cell Probes ; 32: 1-4, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27720768

RESUMO

In vivo and in vitro tests are the two major ways of identifying the triggering allergens in sensitized individuals with allergic symptoms. Both methods are equally significant in terms of sensitivity and specificity. However, in certain circumstances, in vitro methods are highly preferred because they circumvent the use of sensitizing drugs in patients. In current study, we described a highly sensitive immuno-PCR (iPCR) assay for serum IgE specific to Bermuda allergens. Using oligonucleotide-labelled antibody, we used iPCR for the sensitive detection of serum IgE. The nucleotide sequence was amplified using conventional PCR and the bands were visualized on 2.5% agarose gel. Results demonstrated a 100-fold enhancement in sensitivity of iPCR over commercially available enzyme-linked immunosorbent assay (ELISA) kit. Our iPCR method was highly sensitive for Bermuda-specific serum IgE and could be beneficial in allergy clinics.


Assuntos
Alérgenos/imunologia , Especificidade de Anticorpos/imunologia , Cynodon/imunologia , Imunoglobulina E/sangue , Reação em Cadeia da Polimerase/métodos , Humanos , Sensibilidade e Especificidade
6.
Allergol Int ; 66(2): 326-331, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27617656

RESUMO

BACKGROUND: T-cell response outcome is determined by co-stimulatory/inhibitory signals. Programmed cell death-1 ligand-1 (PD-L1) is a member of these co-signaling molecules with known soluble form in human serum. Soluble PD-L1 (sPD-L1) is also recognized in patients with some types of malignancy or autoimmune disorders, though there are few studies on sPD-L1 roles in allergic diseases. The purpose of this survey was to evaluate the association between sPD-L1 levels with eosinophil count as well as disease severity in allergic rhinitis (AR) patients. METHODS: 90 patients with AR were selected. Disease severity was determined by a modified Allergic Rhinitis and its Impact on Asthma (ARIA) classification as mild, moderate and severe. Whole blood samples were collected. Then eosinophil count and serum sPD-L1 were detected by a hematologic analyzer and a commercial ELISA kit. RESULTS: 13 (14.44%), 31 (34.44%), and 46 (51.12%) of patients had mild, moderate and severe disease, respectively. The mean levels of sPD-L1 and eosinophil count were ascertained 18.38 ± 14.42 ng/ml and 422.43 ± 262.26 cell/µl. A significant inverse correlation was determined between sPD-L1 levels and eosinophil count (r = -0.364, P < 0.001). Moreover, we detected a significant negative association between sPD-L1 levels and disease severity (r = -0.384, P < 0.001). CONCLUSIONS: It is deduced that sPD-L1 can be used as a helpful marker to determine the severity of AR. Furthermore, this study indicated that sPD-L1 may have an inhibitory role in AR development, and its modulation may be considered as a useful accessory therapeutic approach for reduction of AR progression.


Assuntos
Antígeno B7-H1/sangue , Eosinófilos , Contagem de Leucócitos , Rinite Alérgica/sangue , Rinite Alérgica/diagnóstico , Adulto , Alérgenos/imunologia , Biomarcadores , Comorbidade , Estudos Transversais , Feminino , Humanos , Masculino , Fenótipo , Prognóstico , Índice de Gravidade de Doença , Adulto Jovem
7.
Allergol Immunopathol (Madr) ; 44(6): 547-555, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27477034

RESUMO

BACKGROUND: Asthma is a heterogeneous disease characterised by chronic inflammatory airways, and is affected by several immunological factors. One of the most discussed and researched hypotheses is the relationship between vitamin D serum levels with asthma. This study aimed to investigate the relationship between vitamin D serum levels with asthma and pulmonary functions in children in Kurdistan province, Iran. MATERIALS AND METHODS: In this case-control study, 120 children ranging from 6 to 18 years were referred in summer for investigation. Participants were divided into two groups: asthma group, N=60; and control group, N=60. After serum separation, samples were analysed using vitamin D ELISA kit. Additionally, pulmonary function test and serum IgE levels were measured in both groups. Data were analysed using Chi-square test and multiple regression analysis in SPSS15. RESULTS: No difference was shown between the groups in terms of gender composition (male: 57.5; female: 42.5) (P>0.05). Average Vitamin D serum level in the case group (17.98±8.68) was less than in control group (22.35±6.26) (P<0.01). In addition, the difference of vitamin D deficiency in level of suboptimal between the asthma (17.77±6.41) and the control group (24.9±3.18) was statistically significant (P<0.0001). Positive correlation existed between vitamin D levels with FEV1, FVC, and FEV1/FVC. Multiple regression analysis showed a reverse relationship between vitamin D levels with IgE serum levels; this remained after adjustment for potential confounders (e.g. age, sex, BMI, FEV1, and FVC). CONCLUSION: The results showed that serum levels of vitamin D in asthma patients were less than in healthy people, and also reduced lung function in these patients. So, the serum levels of vitamin D in asthma patients must be checked continuously.


Assuntos
Asma/diagnóstico , Pulmão/fisiologia , Vitamina D/sangue , Adolescente , Estudos de Casos e Controles , Criança , Progressão da Doença , Feminino , Humanos , Imunoglobulina E/sangue , Irã (Geográfico) , Masculino , Análise de Regressão , Espirometria
8.
J Immunoassay Immunochem ; 36(1): 16-26, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-24568663

RESUMO

Ataxia telangiectasia (AT) is a rare primary immunodeficiency disorder with various clinical manifestations. Increased serum levels of IgM and recurrent infections, mainly sinopulmonary infections, can be the presenting feature in a number of AT patients and may be initially misdiagnosed as hyper-IgM (HIgM) syndrome. This study was designed to investigate class switch recombination (CSR) as a critical mechanism in B lymphocytes' maturation to produce different isotypes of antibody in response to antigen stimulation in AT cases with HIgM presentation. Quantitative IgE production after stimulation by IL-4 and CD40L was considered as an indicator for CSR function. We also compared their results with sex and age matched AT patients without HIgM presentation. We report four AT patients with recurrent infections during infancy and high serum levels of IgM. Laboratory evaluations revealed defective CSR while none of the three AT patients without HIgM presentation had a defect in the CSR process. The characterized defect in AT is a mutation in the ataxia telangiectasia mutated (ATM) gene. This gene may result in CSR defects due to impaired DNA break repair. A special association between AT and HIgM may indicate a new subgroup of AT patients according to their clinical phenotype and CSR condition.


Assuntos
Ataxia Telangiectasia/imunologia , Switching de Imunoglobulina/imunologia , Imunoglobulina M/sangue , Recombinação Genética/imunologia , Ataxia Telangiectasia/genética , Humanos , Switching de Imunoglobulina/genética , Imunoglobulina M/imunologia , Mutação , Recombinação Genética/genética
9.
Arch Dermatol Res ; 316(7): 413, 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38879865

RESUMO

Urticaria is a skin rash with several etiologic factors, including infectious agents. Blastocystis hominis is an intestinal protozoan parasite that has been linked to urticaria and skin lesions. The aim of this work was to investigate the association between B. hominis infection and chronic urticaria. In a case-control study, stool samples were obtained from 94 patients with chronic urticaria as case group and 285 healthy individuals as control group. Urticaria activity score 7 (UAS7) was used to score the severity of urticaria, classified as mild, moderate and intense. All stool samples underwent routine stool examinations, as well as polymerase chain reaction (PCR) for the detection of B. hominis. Molecular detection was carried out using the small subunit ribosomal RNA (SSU-rRNA) gene and the parasite subtypes were determined by sequencing. The rate of B. hominis infection was 21.3% (20 out of 94) and 17.2% (49 out of 285) between the case and control groups, respectively (p = 0.463). Three subtypes of B. hominis, including ST-1, ST-2 and ST-3, were detected in the case and control groups (ST-1 = 30% vs. 8.3%, ST-2 = 40% vs. 25% and ST-3 = 30% vs. 66.6% in the case and control group, respectively), which was statistically significant (p = 0.00001). However, no statistical differences were found between the severity of the urticaria and the B. hominis subtypes (p = 0.533). This study revealed a higher prevalence (but not significant) of B. hominis infection among patients with urticaria than healthy individuals. However, the results did not find a significant association between the subtypes of B. hominis and the severity of urticaria.


Assuntos
Infecções por Blastocystis , Blastocystis hominis , Urticária Crônica , Fezes , Humanos , Infecções por Blastocystis/epidemiologia , Infecções por Blastocystis/complicações , Infecções por Blastocystis/parasitologia , Infecções por Blastocystis/diagnóstico , Blastocystis hominis/isolamento & purificação , Masculino , Feminino , Adulto , Estudos de Casos e Controles , Urticária Crônica/parasitologia , Urticária Crônica/diagnóstico , Pessoa de Meia-Idade , Fezes/parasitologia , Adulto Jovem , Índice de Gravidade de Doença , Adolescente , Idoso , Urticária/parasitologia
10.
Int Immunopharmacol ; 95: 107556, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33756227

RESUMO

The immune and nervous systems possess a highly intricate network of synaptic connections, shared messenger molecules, and exquisite communication ways, allowing intercellular signal transduction. The semaphorins (Semas) were initially identified as axonal guidance molecules in the development of the nervous system but later were found to be implicated also in regulating the immune system, known in this case as the "immune Semas" or "immunoregulatory Semas". Increasingly, these molecules are involved in multiple aspects of both physiological and pathological immune responses and were recently indicated to take part in various immunological disorders, encompassing allergy, cancer, and autoimmunity. Semas transduce signals by connecting to their cognate receptors, namely, plexins and neuropilins. Some of them, like Sema-3F, have been found to function as the inducer of the remyelination process whereas some others, like Sema-3A and Sema-4D, act to inhibit this process, either directly or indirectly. Besides, Sema-4A is crucial to the differentiation of T helper type 1 (Th1) and Th17 cells that are potentially involved in the pathogenesis of multiple sclerosis (MS), an autoimmune disease of the central nervous system. This review aims to reveal the role of immune Semas in the pathogenesis of MS and its animal model, experimental autoimmune encephalomyelitis, focusing on the therapeutic usages of these molecules to treat this neurodegenerative disease.


Assuntos
Esclerose Múltipla/imunologia , Semaforinas/imunologia , Animais , Células Dendríticas/imunologia , Humanos , Ativação de Macrófagos , Macrófagos/imunologia , Esclerose Múltipla/terapia , Proteínas do Tecido Nervoso/imunologia , Receptores de Superfície Celular/imunologia
11.
J Microbiol Immunol Infect ; 53(6): 827-835, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31740220

RESUMO

Polymorphisms of vitamin D receptors (VDRs), ApaI, BsmI, FokI, and TaqI might affect susceptibility to tuberculosis (TB). In this systematic review and meta-analysis, all published articles which investigated the effects of these polymorphisms on the risk of TB in the Iranian population were retrieved. PubMed and Scopus were searched with no date or language restrictions. In this meta-analysis, the Comprehensive Meta-Analysis (CMA) version 2.0 and random effects model were applied. The association of polymorphisms with TB risk was assessed by measuring the odds ratio (ORs) at 95% CI. Heterogeneity was investigated based on Cochran Q-test and I2-index statistics. The significance level was set at 0.05. Also, Egger's regression intercept was determined to measure publication bias. A total of six articles on Iranian populations were included. TaqI (5/6 included studies) showed a significant association with the increased risk of TB based on ORs (allele comparison: 1.57 (1.0, 2.3), p-value: 0.02; additive model of tt/TT: 1.57 (0.9, 2.5), p-value: 0.05; recessive model (tt/Tt + TT): 1.99 (1.2, 3.2), p-value: 0.00; dominant model (tt + Tt/TT): 1.98 (1.1, 3.5), p-value: 0.01). BsmI showed a significant positive effect on TB risk only in its dominant genotype (bb + bB/BB) (1.44 (1.0, 1.9); p-value: 0.02). FokI and ApaI did not show any significant effects on TB development in Iranian populations. Findings showed the significant effect of TaqI polymorphism in all genetic models and the dominant model of BsmI on the increased risk of TB. However, the effects of TaqI and BsmI should be further investigated in a larger sample size.


Assuntos
Desoxirribonucleases de Sítio Específico do Tipo II/genética , Receptores de Calcitriol/genética , Tuberculose Pulmonar/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Mycobacterium tuberculosis , Polimorfismo de Nucleotídeo Único/genética , Deficiência de Vitamina D/patologia
12.
Iran J Public Health ; 48(4): 758-763, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31110987

RESUMO

BACKGROUND: Most influenza vaccines are grown in embryonated eggs and residual egg proteins can cause allergic reactions in patients with egg allergy. The aim of the present study was to determine the safety of inactivated influenza vaccine in patients with egg allergy in Kurdistan Province, Iran. METHODS: This case-control study was done on 876 patients referred to Kurdistan Asthma and Allergy Clinic, Sanandaj, Iran; 635 patients with egg allergy (cases) and 241 patients without egg allergy (controls) from 2012 to 2016. All of the patients were injected seasonal influenza vaccine. Side effects including anaphylactic shock, local reaction, vomiting, coughing, sneezing, wheezing, low blood pressure, redness and itching in the eyes, abdominal pain, dyspnea, oral/facial angioedema, swollen and itching of throat were checked by an allergist within 30 min after vaccination, and followed up to 24 h. Demographic and vaccination data were entered into the SPSS software and analyzed. RESULTS: Out of 876 patients, 460 (52.5%) were male. Patients' ages ranged from 6 months to 80 yr (mean 13.38 ± 15.22 SD). Overall, 63 patients with egg allergy had local reactions to vaccine. Difference of local reactions between case and control groups was statistically significant (P=0.001). No anaphylactic reactions were seen after vaccination. CONCLUSION: Although the risk of anaphylactic reactions to influenza vaccine in patients with egg allergy was rare, the vaccine should be administered by an allergist with precaution. The results of present study can be a confirmation of the existing evidences to prevent acute complications to influenza vaccine.

13.
Expert Rev Clin Immunol ; 15(8): 897-901, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31269820

RESUMO

Background: The etiology of allergic rhinitis includes an increase in cytokine levels, including IL- 4, IL-13, IL-17, and reduction in B7 homologous 1 (B7-H1) or programmed cell death-1 ligand-1 (PD-L1), a new member of the CD28: B7 stimulant molecule family. The aim of this study was to determine the relationship between cytokines and PD-L1. Methods: In this experimental study, 80 patients with allergic rhinitis were enrolled according to inclusion and exclusion criteria. The severity and stage of the disease were determined by a specialist physician. A 5 cc venous blood sample was collected from the patients. IL-4, IL-17, INFγ and PD-L1 were measured using ELISA technique. Results: There was a significant correlation between SPD-L1 and INFγ, IL-4 and IL-17 in allergic rhinitis patients (P < 0.05). Statistical analysis based on the severity of the disease (Mild, Moderate and Severe) showed a significant positive correlation between the SPD-L1 and INFγ in all three levels (P < 0.001). There was also a significant negative correlation between SPD-L1 and two cytokines IL-4 and IL-17 (P < 0.001). Conclusion: PD-L1 may have a protective role against allergic rhinitis, although the precise mechanism requires further detailed studies.


Assuntos
Antígeno B7-H1/sangue , Interferon gama/sangue , Interleucina-17/sangue , Interleucina-4/sangue , Rinite Alérgica/sangue , Adulto , Proteínas de Ciclo Celular/sangue , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Interleucina-13/sangue , Masculino , Receptor de Morte Celular Programada 1/sangue , Rinite Alérgica/diagnóstico , Rinite Alérgica/imunologia , Índice de Gravidade de Doença
15.
Arch Iran Med ; 18(11): 760-4, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26497373

RESUMO

BACKGROUND: Leukocyte adhesion deficiency type I (LAD-I) is a rare, autosomal recessive inherited immunodeficiency disease. LAD-I is caused by mutations in the ITGB2 gene and characterized by recurrent severe bacterial infections, as well as impaired wound healing with lack of pus formation. METHODS: In this study, we investigated ITGB2 gene mutations in 12 patients and their parents. Genomic DNA was extracted from whole blood samples. All coding regions of the ITGB2 gene were amplified using PCR and followed by direct sequencing. RESULTS: Genetic analysis revealed 12 different homozygous mutations, including six missense (c.382G>A, c.2146G>C, c.715G>A, c.691G>C, c.1777C and new c.1686C>A), two new nonsense (c.1336G>T and c.1821C>A), three-frame shift (c.1143delc, c.1907delA and new c.474dupC) and a splice site (c.1877+2T>C). Flow cytometry analysis of CD11/CD18 expression on neutrophils revealed defect in CD18 in all twelve cases (1.4% to 42%), CD11a in ten cases (0.1% to 26.7%), CD11b in nine cases (1.2% to 58.8%), and CD11c in all cases (0 % to 18.1%). The patients' parents were both heterozygous carriers. CONCLUSION: Our findings showed four new mutations in the ITGB2 gene. These results can be used for decisive genetic diagnosis, genetic counseling, as well as  prenatal diagnosis for all patients who are suspended to LADI.


Assuntos
Antígenos CD18/genética , Síndrome da Aderência Leucocítica Deficitária/genética , Criança , Pré-Escolar , Códon sem Sentido , Análise Mutacional de DNA , Feminino , Testes Genéticos , Heterozigoto , Homozigoto , Humanos , Lactente , Irã (Geográfico) , Masculino , Gravidez
16.
Gut Liver ; 8(1): 24-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24516697

RESUMO

BACKGROUND/AIMS: Inflammatory bowel disease (IBD) is a chronic disease of the gastrointestinal tract, whose etiologies are still unknown. This study was performed to evaluate the humoral immune response in terms of B cell functions in selected IBD patients. METHODS: Eighteen pediatric patients with IBD, including 12 cases of ulcerative colitis (UC) and six with Crohn disease (CD), were enrolled in this study. The pneumococcal vaccine was injected in all patients, and the IgG antibody level to the polysaccharide antigen was measured before and 4 weeks after injection. The B cell switch-recombination process was evaluated. RESULTS: Five patients with IBD (three CD and two UC) had defects in B cell switching, which was significantly higher than in controls (p=0.05). Ten patients had a specific antibody deficiency and exhibited a higher frequency of bacterial infection than the healthy group. The mean increased level of IgG after vaccination was lower in IBD patients (82.9±32.5 µg/mL vs 219.8±59.0 µg/mL; p=0.001). Among the patients who had an insufficient response, no significant difference in the number of switched memory B-cell was observed. CONCLUSIONS: A defect in B lymphocyte switching was observed in pediatric IBD patients, and especially in those patients with CD. Owing to an increased risk of bacterial infections in those patients with antibody production defects, pneumococcal vaccination could be recommended. However, not all patients can benefit from the vaccination, and several may require other prophylactic methods.


Assuntos
Formação de Anticorpos/efeitos dos fármacos , Colite Ulcerativa/imunologia , Doença de Crohn/imunologia , Doenças Inflamatórias Intestinais/imunologia , Vacinas Pneumocócicas/farmacologia , Polissacarídeos/farmacologia , Adolescente , Linfócitos B/metabolismo , Criança , Pré-Escolar , Colite Ulcerativa/complicações , Doença de Crohn/complicações , Feminino , Humanos , Imunoglobulina G/metabolismo , Doenças Inflamatórias Intestinais/complicações , Masculino , Resultado do Tratamento
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