Publications by authors named "Javad Ghaffari"

38 Publications

Autoimmune Manifestations among Patients with Monogenic Inborn Errors of Immunity.

Pediatr Allergy Immunol 2021 Mar 27. Epub 2021 Mar 27.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.

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, immunological, 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%), 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 (due to phenocopies of IEI genes) to discover responsible genes for the immune dysregulation at an early stage of the disease.
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http://dx.doi.org/10.1111/pai.13510DOI Listing
March 2021

Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.

Endocr Metab Immune Disord Drug Targets 2021 Feb 26. Epub 2021 Feb 26.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran. Iran.

Background: Dedicator of Cytokinesis 8 (DOCK8) deficiency, the most frequent cause of autosomal recessive hyper immunoglobulin (Ig)E syndrome, is a rare combined immunodeficiency.

Objective: In this study, we report seven patients with consanguineous parents with five novel variants within the DOCK8 gene.

Methods: For genetic analysis, we performed Whole Exome Sequencing (WES), or targeted sequencing by means of Next-generation sequencing (NGS) for some of the patients. For others, Sanger sequencing, Fluorescence-activated cell sorting (FACS), or polymerase chain reaction (PCR) was used.

Results: We report five novel variants within the DOCK8 gene: three deletions (deletion of exons 4-12, 24-30, and 22-27), one frameshift (LRG_196:g.189315dup;p.(Leu1052Profs*7)), and a splice region variant (LRG_196t1:c.741+5G>T). Patients presented with skin lesions, food allergy, candidiasis, otitis, recurrent respiratory infections, short stature, aortic aneurism, gynecomastia, and coarse facial features. Patients had leukocytosis, eosinophilia, lymphopenia, and monocytosis, elevated IgE, IgG, IgA , reduced IgM and IgA levels. Patients had a low percentage of CD3+ and CD4+ cells, and a high percentage of CD19+, CD27+CD19+, and recent thymic emigrants T cells. The percentage of natural killer cells was increased in one of the patients while it was decreased in another patient. One patient died due to disseminated intravascular coagulation after hematopoietic stem cell transplantation.

Conclusion: We reported novel variants within the DOCK8 gene and highlighted risk of aneurysms in these patients, which have been rarely reported in these patients.
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http://dx.doi.org/10.2174/1871530321666210226143912DOI Listing
February 2021

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.

Int Arch Allergy Immunol 2020 2;181(9):706-714. Epub 2020 Jul 2.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran,

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.
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http://dx.doi.org/10.1159/000508817DOI Listing
February 2021

Prevalence of Intestinal Parasites among Patients with Chronic Urticaria in Northern Iran.

Infect Disord Drug Targets 2020 04 27. Epub 2020 Apr 27.

Department of Parasitology and Mycology, Tonekabon Branch, Faculty of Medicine, Islamic Azad University, Tonekabon. Iran.

Background: Chronic urticaria (CU) has a range of clinical demonstrations and causes. Parasitic infections are mentioned as one of the main causes of the CU.

Objectives: The aim of this study was to investigate the prevalence of intestinal parasites in patients with CU compared with healthy subjects.

Methods: A total of 169 cases and 210 controls were included in this study. Ages ranged from 1 to 77 years old.

Results: Of the 379 individuals examined here, 208 were from urban areas and 171 from rural areas. Three stool samples were taken from each patient in three consecutive days. Based on parasitological tests, 7 (4.1%) cases from 169 patients with CU and 6 (2.9%) cases from 210 non- CU group individuals were positive for intestinal parasites.

Conclusion: The prevalence of various parasites between case and control groups was not significant.
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http://dx.doi.org/10.2174/1871526520666200428095729DOI Listing
April 2020

Assessment the Effect of Dexamethasone on Urinary Cytokines and Renal Scar in Children with Acute Pyelonephritis.

Iran J Kidney Dis 2019 07;13(4):244-250

Pediatric Infectious Diseases Research Center, Mazandaran University of Medical Sciences, Sari, Iran.

Introduction: One of the most serious complications of acute febrilepyelonephritis in children is the development of renal scar. Thisstudy aimed to investigate the effect of dexamethasone on urinarycytokine levels and renal scar in children with acute pyelonephritis.

Methods: In a double-blind randomized clinical trial, 60 childrenaged 3 months to 12 years with acute febrile pyelonephritis enrolled.The experimental group was treated with a combination of antibioticand dexamethasone, and the control group underwent treatmentwith antibiotic and placebo. The urinary levels of interleukin -6(UIL-6) and -8 (UIL-8) were measured before treatment as baselineand were repeated four days later.

Results: 52 cases (23 patients with mean age of 34.19 ± 30.82 monthsin the dexamethasone group, and 29 patients with mean age of50.55 ± 44.41 months in the control group) completed the study. Inthe control group, the UIL-6 and UIL-8 level became significantlylower after four days treatment (P < .05). In the dexamethasonegroup, there was a statistically significant difference between bothUIL-6 and UIL-8 levels before and after treatment (P < .05). Inpatients who had scar on DMSA scan, the mean UIL-8 and UIL-6levels were significantly high before and after treatment.

Conclusion: Results of this study showed that dexamethasone plusantibiotic have no clear superiority to antibiotic therapy alone indecreasing inflammatory cytokines and scar formation. We foundout that patients with scar had sustained high levels of biomarkersbefore and after treatment.
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July 2019

Prevalence of Human T-lymphotropic Virus Type 1 (HTLV-1) Infection in Patients with Different Etiologies.

Authors:
Javad Ghaffari

Arch Iran Med 2019 06 1;22(6):353. Epub 2019 Jun 1.

Mazandaran University of Medical Sciences, Sari, Iran.

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June 2019

A review on hypersensitivity reactions to fungal aeroallergens in patients with allergic disorders in Iran.

Curr Med Mycol 2019 Mar;5(1):42-47

Invasive Fungi Research Center, Student Research Committee, Mazandaran University of Medical Sciences, Sari, Iran.

Fungal agents account for the clinical manifestation of allergic disorders. The aim of the present study was to review the prevalence of hypersensitivity reactions to fungal aeroallergens in patients with allergic disorders, including allergic rhinitis, asthma, urticaria, and eczema, in Iran. The initial literature search resulted in the identification of 50 records, 26 cases of which met the inclusion criteria. Regarding the methods adopted for the detection of fungal allergens, serum-specific IgE and skin prick tests were used in 6 and 20 studies, respectively. and sensitization was the most common allergic sensitization among the patients with allergic disorders. According to the reviewed studies, despite the humid climate of the north of Iran, fungal sensitization has a prevalence range of 5-70% in this region. In other regions, such as central and southern Iran, which have a dry and warm climate, fungal sensitization reportedly has a prevalence range of 5-65%. The prevalence of fungal sensitizations varies in different allergic disorders due to the factors related to geographic and genetic issues, gender, sample size, test operator, and assessment method.
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http://dx.doi.org/10.18502/cmm.5.1.537DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488288PMC
March 2019

The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.

Immunol Invest 2019 May 19;48(4):410-430. Epub 2019 Mar 19.

a Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center , Tehran, and the University of Medical Science , Tehran , Iran.

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell abnormalities, decreased amount of serum uric acid and PNP enzyme activity. The affected patients usually present with recurrent infections, neurological dysfunction and autoimmune phenomena. In this study, whole-exome sequencing was used to detect mutation in the case suspected of having primary immunodeficiency. We found a homozygous mutation in PNP gene in a girl who is the third case from the national Iranian registry. She had combined immunodeficiency, autoimmune hemolytic anemia and a history of recurrent infections. She developed no neurological dysfunction. She died at the age of 11 after a severe chicken pox infection. PNP deficiency should be considered in late-onset children with recurrent infections, autoimmune disorders without typical neurologic impairment.
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http://dx.doi.org/10.1080/08820139.2019.1570249DOI Listing
May 2019

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

J Clin Immunol 2018 10 9;38(7):816-832. Epub 2018 Oct 9.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Background: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Results: Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

Conclusions: During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.
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http://dx.doi.org/10.1007/s10875-018-0556-1DOI Listing
October 2018

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Authors:
Reza Yazdani Hassan Abolhassani Fatemeh Kiaee Sima Habibi Gholamreza Azizi Marzieh Tavakol Zahra Chavoshzadeh Seyed Alireza Mahdaviani Tooba Momen Mohammad Gharagozlou Masoud Movahedi Amir Ali Hamidieh Nasrin Behniafard Mohammamd Nabavi Mohammad Hassan Bemanian Saba Arshi Rasol Molatefi Roya Sherkat Afshin Shirkani Reza Amin Soheila Aleyasin Reza Faridhosseini Farahzad Jabbari-Azad Iraj Mohammadzadeh Javad Ghaffari Alireza Shafiei Arash Kalantari Mahboubeh Mansouri Mehrnaz Mesdaghi Delara Babaie Hamid Ahanchian Maryam Khoshkhui Habib Soheili Mohammad Hossein Eslamian Taher Cheraghi Abbas Dabbaghzadeh Mahmoud Tavassoli Rasoul Nasiri Kalmarzi Seyed Hamidreza Mortazavi Sara Kashef Hossein Esmaeilzadeh Javad Tafaroji Abbas Khalili Fariborz Zandieh Mahnaz Sadeghi-Shabestari Sepideh Darougar Fatemeh Behmanesh Hedayat Akbari Mohammadreza Zandkarimi Farhad Abolnezhadian Abbas Fayezi Mojgan Moghtaderi Akefeh Ahmadiafshar Behzad Shakerian Vahid Sajedi Behrang Taghvaei Mojgan Safari Marzieh Heidarzadeh Babak Ghalebaghi Seyed Mohammad Fathi Behzad Darabi Saeed Bazregari Nasrin Bazargan Morteza Fallahpour Alireza Khayatzadeh Naser Javahertrash Bahram Bashardoust Mohammadali Zamani Azam Mohsenzadeh Sarehsadat Ebrahimi Samin Sharafian Ahmad Vosughimotlagh Mitra Tafakoridelbari Maziar Rahim Parisa Ashournia Anahita Razaghian Arezou Rezaei Ashraf Samavat Setareh Mamishi Hossein Ali Khazaei Javad Mohammadi Babak Negahdari Nima Parvaneh Nima Rezaei Vassilios Lougaris Silvia Giliani Alessandro Plebani Hans D Ochs Lennart Hammarström Asghar Aghamohammadi

J Allergy Clin Immunol Pract 2019 03 19;7(3):864-878.e9. Epub 2018 Sep 19.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.

Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.

Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID.

Results: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008).

Conclusions: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment.
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http://dx.doi.org/10.1016/j.jaip.2018.09.004DOI Listing
March 2019

Hyperimmunoglobulin E syndrome.

Authors:
Javad Ghaffari

J Res Med Sci 2018 30;23:46. Epub 2018 May 30.

Department of Allergy and Clinical Immunology, Bou Ali Sina Hospital, Mazandaran University of Medical Sciences, Sari, Mazandaran, Iran.

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http://dx.doi.org/10.4103/jrms.JRMS_40_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996575PMC
May 2018

The prevalence of children's asthma: A few comments.

Authors:
Javad Ghaffari

Clin Respir J 2018 Sep 29;12(9):2454. Epub 2018 Aug 29.

Mazandaran University of Medical sciences, Sari, Iran.

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http://dx.doi.org/10.1111/crj.12913DOI Listing
September 2018

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

J Allergy Clin Immunol 2018 04 12;141(4):1450-1458. Epub 2017 Sep 12.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

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.
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http://dx.doi.org/10.1016/j.jaci.2017.06.049DOI Listing
April 2018

Association among Thyroid Dysfunction, Asthma, Allergic Rhinitis and Eczema in Children with Alopecia Areata.

Open Access Maced J Med Sci 2017 Jun 11;5(3):305-309. Epub 2017 Jun 11.

Mazandaran University of Medical Sciences, Sari, Iran.

Background: Alopecia areata is a non-scarring hair loss, which typically starts quickly. Atopy is one of the possible predisposing risk factors for this condition.

Aim: This study aimed to evaluate the prevalence of thyroid disease, atopic dermatitis and allergic diseases in children with alopecia areata and compare the results with healthy individuals.

Methods: This case-control study was conducted on 50 patients with alopecia areata, diagnosed by a dermatologist, and 150 healthy individuals as the control group. Participants filled the questionnaires, and necessary tests were performed.

Results: In this study, the mean age of the participants was 2.55 ± 14.26 and 3.19 ± 11.92 in the case and control groups, respectively. Prevalence of asthma was 22% in the case group and 12.5% in control group (P = 0.109). Also, allergic rhinitis and eczema were observed in 20% and 22% of the subjects of the case group, whereas they were reported to be 8% and 10% in the control group (PV = 0.03 and 0.175, respectively). Moreover, 28% and 8% of the participants in the case and control groups had a family history of atopy and allergic disorders, respectively (P = 0.046). A significant difference was observed between the two groups regarding gender, type of delivery and contact with animals.

Conclusions: According to the results of this study, a significant association was observed between the prevalence of alopecia areata and atopic conditions, such as allergic rhinitis and history of atopic dermatitis.
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http://dx.doi.org/10.3889/oamjms.2017.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503727PMC
June 2017

Conjugate and 23-valent pneumococcal polysaccharide booster vaccination in asplenic patients with thalassemia major: A randomized clinical trial study.

Caspian J Intern Med 2017 ;8(1):16-22

Pharmaceutical Sciences Research Center, Mazandaran University of Medical Sciences, Sari, Iran.

Background: Pneumococcal vaccine provides protection against invasive pneumococcal disease in population at risk. This study was conducted to compare the antibody response to 13-valent pneumococcal conjugate vaccine and 23-valent pneumococcal polysaccharide vaccine in patients with thalassemia major.

Methods: A randomized cross-over clinical trial was performed on 50 asplenic patients with thalassemia major who referred to thalassemia center at Bouali Sina Hospital, Sari, Iran from 2013 to 2014. Patients were divided into two equal groups. The first group received 13-valent pneumococcal conjugate vaccine (PCV) injected into the deltoid muscle at first and received 23-valent polysaccharide vaccine (PPV) by the same way two months later. The second group received PPV vaccine at first and PCV13 two months later. Levels of serum antibody were checked and measured by enzyme-linked immunosorbent assay (ELISA) before vaccination, and then 8 weeks after the first injection and 2 months after the second injection in all patients. Each time 0.5-ml dose of the vaccine was injected.

Results: Of the 50 patients, three cases were excluded due to lack of cooperation and avoidance of vaccination. From 47 patient participants, 28 (59.6%) were males and 19 (40.4%) were females with age ranged between 20 to 44 years (average age of 29.6±1.4 years). Pneumococcal IgG levels in a group that used PCV before PPV (Group A) increased from 114.5±87.7 to 1049±720 U/ml (p=0.0001) and in another group that used PPV before PCV (Group B) increased from 115±182.2 to 1497.3±920.3 U/ml (P=0.0001).

Conclusion: It can be concluded that PCV vaccine before PPV can be more effective in asplenic thalassemia major patients as a booster dose.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412244PMC
January 2017

Comparison of the effect of aspirin and heparin with or without intravenous immunoglobulin in treatment of recurrent abortion with unknown etiology: A clinical study.

J Nat Sci Biol Med 2015 Aug;6(Suppl 1):S17-21

Obstetric and Gynecologist, Fellowship of Oncology, Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran.

Introduction And Objective: Abortion is the most common complication of pregnancy, defined as spontaneous expulsion of products of conception before 24 weeks of pregnancy or termination of pregnancy with a fetus weighing <500 g. The aim of this study was to compare the efficacy of intravenous immunoglobulin (IVIG) in combination regimens with aspirin and heparin versus aspirin and heparin combination alone in women with idiopathic recurrent abortion.

Materials And Methods: This randomized, clinical trial was performed at Imam Khomeini Hospital in Sari-Iran between March 2010 and March 2013. Sixty people were randomly allocated into two groups. The control group was treated by subcutaneous enoxaparin 40 mg daily up to 24 weeks associated with aspirin 80 mg daily up to 37 weeks of gestation. The intervention group received IVIG 200 mg/kg monthly up to 24 weeks of gestation with enoxaparin and aspirin for the same therapeutic period and the same dose as the control group.

Results: Three patients (10%) in the intervention group had abortion and 25 (90%) had live births with mean birth weight 3.5 ± 0.9 kg. Four patients (13%) in the control group had abortions, and 28 (87%) had live births with birth weight 3.4 ± 1.2 kg (P = 0.74). The difference was not statistically significant.

Conclusions: It seems that employing the heparin and aspirin combination therapeutic regimen is appropriate for idiopathic abortions and avoids the high cost of IVIG use and its complications.
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http://dx.doi.org/10.4103/0976-9668.166054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630756PMC
August 2015

Corrigendum to "Evaluation of Candida Colonization and Specific Humoral Responses against Candida albicans in Patients with Atopic Dermatitis".

Biomed Res Int 2015 2;2015:142453. Epub 2015 Aug 2.

Department of Medical Mycology and Parasitology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran ; Invasive Fungi Research Center, Mazandaran University of Medical Sciences, Sari, Iran.

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http://dx.doi.org/10.1155/2015/142453DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537777PMC
October 2015

Evaluation of Candida Colonization and Specific Humoral Responses against Candida albicans in Patients with Atopic Dermatitis.

Biomed Res Int 2015 6;2015:849206. Epub 2015 Apr 6.

Department of Medical Mycology and Parasitology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran ; Invasive Fungi Research Center, Mazandaran University of Medical Sciences, Sari, Iran.

The aim of this study was to assess the candidal colonization and specific humoral responses against Candida albicans in patients with atopic dermatitis. One hundred patients with atopic dermatitis and 50 healthy individuals were enrolled in the study. Skin and oral specimens from all participants were cultured on CHROMagar Candida medium. Isolated yeasts were identified by using the sequence of the D1/D2 domain of the 26S rRNA gene. ELISA was used for detection of IgM, IgA, and IgG antibodies against C. albicans in sera of participants. Candida species were isolated from the skin and oral cavity of 31% of the patients and 12% of the controls. There was no significant difference between Candida colonization in patients and controls (P > 0.05). Candida albicans was isolated from the skin and oral cavity of 23% of the patients and 6% of the controls (P < 0.05). There were no significant differences between serum levels of IgM and IgA in patients and controls (P > 0.05). Serum level of IgG was significantly lower in patients than in controls (P < 0.05). Type of Candida colonization can change in patients with atopic dermatitis. In addition, these patients have abnormalities in the production of antibodies against Candida albicans that may have a role in the pathogenesis of atopic dermatitis.
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http://dx.doi.org/10.1155/2015/849206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402473PMC
January 2016

Long-term evaluation of a historical cohort of Iranian common variable immunodeficiency patients.

Expert Rev Clin Immunol 2014 Oct;10(10):1405-17

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, 62 Qarib St., Keshavarz Blvd., Tehran 14194, Iran.

Objectives: Common variable immune deficiency (CVID) is the most frequent form of symptomatic primary immunodeficiency disease, characterized by hypogammaglobulinemia, recurrent infections and increased predisposition to autoimmunity and malignancies. The aim of this study was to reconsider important points of previously performed studies on Iranian CVID patients diagnosed and followed from 1984 to 2013.

Methods: Diagnosis was made using approved criteria including reductions of serum levels of immunoglobulins and exclusion of well-known single gene defects in individuals with an age >4 years and evidence of specific antibody deficiency.

Results: Detailed information on demographic data, survival rates, clinical phenotypes, immunologic and genetic data and treatment of 173 patients are provided. The early onset presentation (74.5%) and rate of consanguineous marriage (61.2%) were considerably higher in our cohort. Our study revealed clinically related correlations regarding consanguinity, the population of naïve CD4(+) T cells and switched-memory B cells, cytokine levels and special genetic factors (including HLA and AID genes).

Conclusion: Despite current efforts, more comprehensive studies are needed, especially for classification and investigation of the genetic background and prognostic factors for patients with CVID in order to better managment and followup of patinets.
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http://dx.doi.org/10.1586/1744666X.2014.958469DOI Listing
October 2014

IQ Score of Children with Persistent or Perennial Allergic Rhinitis: A Comparison with Healthy Children.

Iran J Child Neurol 2014 ;8(3):44-8

Department of Biostatistics, Faculty of Health, Mazandaran University of Medical Science, Sari, Iran.

Objective: Prevalence of allergies is different around the world. Allergic rhinitis is a common chronic disease in children. Intelligence quotient (IQ) is an indicator of efficacy and many factors including chronic diseases may affect it. This study compares the IQs of children diagnosed with persistent or perennial allergic rhinitis with healthy children.

Material & Methods: This was a comparative study that was conducted from June 2011-May 2013 in an academic referral clinic. In this study, 90 patients aged 6- to 14-yearsold who were diagnosed with persistent or perennial allergic rhinitis and were compared to 90 age and gender match healthy patients from their respective families. The Wechsler Intelligence Scale for Children was used to divide and calculate overall IQ, verbal IQ, and practical IQ. The t-test and chi square were used to analyze quantitative variables and qualitative variables, respectively.

Results: In this study, out of total 180 children, 90 (50%) in the case group and 90 children (50%), the control group participated for IQ comparison. One hundred (57%) were male and 80 (43%) were female. The overall IQ for allergic rhinitis patients and healthy patients was 109.2 and 107.5, respectively. This difference was not considered significant. Furthermore, there was no significant difference between the IQ scores of males and females.

Conclusion: Although allergic rhinitis is a chronic disease and effects quality of life, there were no identifiable negative effects on IQ.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135280PMC
August 2014

Leserbriefe.

Authors:
Javad Ghaffari

J Dtsch Dermatol Ges 2014 Apr;12(4):365

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http://dx.doi.org/10.1111/ddg.12311DOI Listing
April 2014

Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry.

J Clin Immunol 2014 May;34(4):478-90

Background: Primary immunodeficiency disorders (PID) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections and increased susceptibility to malignancies, lymphoproliferative and autoimmune conditions. National registries of PID disorders provide epidemiological data and increase the awareness of medical personnel as well as health care providers.

Methods: This study presents the demographic data and clinical manifestations of Iranian PID patients who were diagnosed from March 2006 till the March of 2013 and were registered in Iranian PID Registry (IPIDR) after its second report of 2006.

Results: A total number of 731 new PID patients (455 male and 276 female) from 14 medical centers were enrolled in the current study. Predominantly antibody deficiencies were the most common subcategory of PID (32.3 %) and were followed by combined immunodeficiencies (22.3 %), congenital defects of phagocyte number, function, or both (17.4 %), well-defined syndromes with immunodeficiency (17.2 %), autoinflammatory disorders (5.2 %), diseases of immune dysregulation (2.6 %), defects in innate immunity (1.6 %), and complement deficiencies (1.4 %). Severe combined immunodeficiency was the most common disorder (21.1 %). Other prevalent disorders were common variable immunodeficiency (14.9 %), hyper IgE syndrome (7.7 %), and selective IgA deficiency (7.5 %).

Conclusions: Registration of Iranian PID patients increased the awareness of medical community of Iran and developed diagnostic and therapeutic techniques across more parts of the country. Further efforts must be taken by increasing the coverage of IPIDR via electronically registration and gradual referral system in order to provide better estimation of PID in Iran and reduce the number of undiagnosed cases.
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http://dx.doi.org/10.1007/s10875-014-0001-zDOI Listing
May 2014

IQ Scores of Children with Moderate Asthma: A Comparison with Healthy Children.

Oman Med J 2014 Jan;29(1):71-4

Masters in Psychology, Sari, Iran.

Objective: Intelligence quotient is an indicator of one's efficacy and many factors including chronic diseases may impact upon it. This study aims to compare the IQ of children diagnosed with moderate asthma to the IQ of healthy children.

Methods: This comparative study was conducted between June 2011 and January 2012 in an Academic Referral Clinic. In this study, 114 patients aged 6 to 13 years who were diagnosed with moderate asthma were compared with 90 age and sex matched healthy patients from their families. Wechsler intelligence scale for children was used by split half method to calculate the overall IQ, verbal IQ and practical IQ. The t-test and Chi square test were used to analyze quantitative variables and qualitative variables, respectively.

Results: In this study, 204 children, 114 (56%) in the case group and 90 children (44%) in the control group participated in comparing their IQs. One hundred and fifteen (56%) were males and 89 (44%) were females. The overall IQs of asthmatic patients and healthy patients were 109 and 108, respectively; the difference was not significant (p=0.905). Furthermore, there was no significant difference in the IQ scores between males and females.

Conclusion: Although asthma is a chronic disease and causes many respiratory problems, it has no negative impact on IQ.
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http://dx.doi.org/10.5001/omj.2014.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3910404PMC
January 2014

Vitamin e supplementation, lung functions and clinical manifestations in children with moderate asthma: a randomized double blind placebo- controlled trial.

Iran J Allergy Asthma Immunol 2014 Apr;13(2):98-103

Department of Allergy and Clinical Immunology, Molecular and Cellular Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.

Asthma is the most common chronic inflammatory disorder characterized by cough, wheezing and dyspnea in children. Nutrition is an important factor which influences on induction and exacerbation of asthma. There are controversies to use Vitamin E in asthmatic patients. The aim of this study was to evaluate the effect of vitamin E supplement in children with moderate asthma. This is a randomized double blind placebo-controlled trial performed on children (age 2-17 years old) with moderate asthma (5-17 years old) from March 2010 to March 2012. Case group were treated with fluticasone and vitamin E (50mg/day) and control group received fluticasone plus placebo for 8 weeks. Out of 300 cases, 240 cases completed the study. Female to male ratio was 0.84. Serum level of Vitamin E significantly increased after treatment in intervention group. FEV1 and FEV1/FVC ratio was significantly improved in case group compared to the control group. It can be concluded that vitamin E supplement could improve clinical manifestations and pulmonary function test in children with moderate asthma.
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April 2014

Psoriasis in hyper IgE syndrome - a case report.

Caspian J Intern Med 2013 ;4(3):735-8

Department of Pediatrics, Mazandaran University of Medical Sciences, Sari, Iran.

Background: Hyper IgE syndrome (HIES) is a rare primary immune deficiency, described as Job(`)s syndrome characterized by increased serum levels of IgE, eczema, recurrent cutaneous and pulmonary infections. In this paper, we presented a case of Hyper IgE syndrome.

Case Presentation: A 16-year-old Iranian boy presented with a one year history of skin lesions in knees and elbows was diagnosed of psoriasis disease. He had a history of recurrent infections including otitis media, pneumonia, diarrea and skin infection. Laboratory results showed increased level of total IgE and normal in other immunoglobulin. Histologic finding showed hyperkeratosis, parakeratosis of acanthotic epidermis with regular elongation of rete ridges diagnose psoriasis disorder.

Conclusion: In conclusion, this is the first case of hyper IgE patient with psoriasis disorder. We addressed the important laboratory findings and actual theories explaining possible association between hyper IgE immunoglobulinemia and psoriasis disorder.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755830PMC
September 2013

Seroepidemiology of human T-cell lymphotropic virus 1 infection in hemodialysis patients: should we be concerned about it?

Iran J Kidney Dis 2013 May;7(3):187-90

Department of Immunology, Mazandaran University of Medical Sciences, Sari, Iran.

Human T-cell lymphotropic virus 1 (HTLV1) is a lymphotropic virus which can be transmitted through unprotected sexual activity, breast feeding, and blood transfusion. Although most of HTLV1-infected individuals remain asymptomatic carriers, 1% to 5% and 3% to 5% develop adult T-cell leukemia and HTLV1-associated myelopathy/tropical spastic paraparesis, respectively. The aim of this study was to determine the prevalence of HTLV1 infection in hemodialysis patients in Sari and Ghaemshahr. This cross-sectional study was conducted on160 patients using random samples selection, and included 80 men and 80 women (mean age, 59.1 ± 14.7 years). All the samples were screened for HTLV1 antibody by enzyme-linked immunosorbent assay and positive samples were confirmed by Western blot assay. Only 1 patient had a positive anti-HTLV1 enzyme-linked immunosorbent assay test, which was confirmed by Western blot. The overall prevalence of HTLV1 seropositivity was 0.6%. The patient was a 21-year-old woman with a history of multiple blood transfusions. She had a history of unsuccessful kidney transplantation and had been on hemodialysis before transplant, too. This study suggests that HTLV1 infection may not be prevalent in high-risk patients in Mazandaran province, and there is no need for HTLV1 screening of blood samples.
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May 2013

Prevalence of asthma, allergic rhinitis and eczema in elementary schools in Sari (Iran).

Caspian J Intern Med 2012 ;3(1):372-6

Mazandaran University of Medical Sciences, Sari, Iran.

Background: Allergic diseases including asthma, allergic rhinitis (AR) and eczema are common chronic diseases in children. The purpose of this study was to determine the prevalence of asthma, AR and eczema in Sari, Iran.

Methods: This study was carried out on all elementary schools selected as a cluster from February 2010 to July 2010 in Sari, North of Iran. A questionnaire was provided according to International Study of Asthma and Allergies in Childhood (ISAAC) protocol. Asthma, AR, eczema and their combinations were recorded.

Results: Out of the 1818 cases, 646 (35%) subjects had allergic disorder; 223 (12%) had asthma, 318 (17%) had AR and 105 (6%) had eczema The prevalence of allergic disorder in boys (65%) was higher than the girls (40%) (p<0.05).

Conclusion: The results show that around one - third of the elementary school children have allergic disorders. The prevalence in males is higher than the females.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600135PMC
November 2015

FOXP3 and TGF-β gene polymorphisms in allergic rhinitis.

Iran J Immunol 2011 Dec;8(4):218-25

Department of Immunology and Microbiology, Mazandaran University of Medical Sciences, Sari, Iran, e-mail:

Background: Regulatory CD4+ T (Treg) cells are effective in maintaining immune tolerance.

Objective: To investigate single nucleotide polymorphisms (SNPs) of Transforming Growth Factor β-1 (TGF-β1) and Forkhead Box Protein 3 (FOXP3) genes in Iranian patients with allergic rhinitis (AR).

Methods: Variations at codons 10 and 25 of TGF-β1 and FOXP3 at positions -3279 A>C and -924 A>G were evaluated in AR patients and compared with controls. In a case-control study, 155 AR patients and 163 allergy-free controls were genotyped using polymerase chain reaction sequence-specific primer (PCR-SSP) technique.

Results: The analysis of the frequency of these SNPs showed that the haplotype formed by FOXP3 -3279 A allele occurred significantly more frequently in patients than controls (odds ratio=1.44, 95% CI=1.312-2.66; p=0.001).

Conclusion: Our results suggest that polymorphism in FOXP3 gene is associated with susceptibility to AR.
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December 2011

MICB gene expression on peripheral blood mononuclear cells and susceptibility to multiple sclerosis in north of Iran.

Iran J Allergy Asthma Immunol 2011 Dec;10(4):261-5

Microbiology and Immunology Department, Mazandaran University of Medical Sciences, Sari, Iran.

Multiple sclerosis (MS) is an autoimmune multifactorial degenerative disease with detrimental affliction on central nervous system. MHC class I chain- related geneA,B(MICA and MICB) are nonclassical human leukocyte antigens that can affect on some diseases and also on transplantation. The purpose of this study was to evaluate the MICA and MICB MRNA expression in multiple sclerosis patients. In this study, we evaluated MICA and MICB MRNA expression in the peripheral blood mononuclear cells by reverse transcryptase-polymerase chain reaction(RT-PCR) in MS patients and normal controls. The results of this study showed that 32.6% of patients with progressive clinical outcome over expressed MICB genes in comparison with controls ( p=0.002). It is concluded that the high expression of MICB gene in MS patients is an important criterion of MS disease that it may be due to the interaction between MICB and its receptor on CD8+T or NK cells.
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http://dx.doi.org/010.04/ijaai.261265DOI Listing
December 2011

Humoral immune system state in ß thalassemia major.

Med Glas (Zenica) 2011 Aug;8(2):192-6

Department of Pediatrics, Division on Immunology and Allergy, Thalassemia Research Center, Mazandaran University of Medical Sciences, Iran.

Aim: To investigate the humeral immune markers in patients with β-thalassemia major (TM).

Methods: In this historical - cohort study (August to December 2007), the case group consisted of 34 TM patients and the control group included the same number of their gender and age matched healthy siblings. Serum levels of CH50, C3, C4, IgE, IgG,IgA,IgM and also ASO and Isohemaglutinin titers were determined and compared between the case and control groups (P<0.05).

Results: Serum level of IgA in TM patients was more frequently higher than normal level compared to the controls, but there were no significant differences on the level of C3, C4, CH50, IgG, IgE, IgM, ASO and Isohemaglutinin between two groups. Splenectomized patients had lower IgM and higher IgA and IgG levels and also diabetic patients had significantly lower C3, ASO, IgM and higher IgA and IgG levels than other patients. Levels of IgA, IgE, IgG, and ASO increased in elder patients. Patients with serum ferritin level >3000 ng/ml had lower C4 and CH50 levels. C4-level in male patients was significantly lower.

Conclusions: This study indicated that there were no significant changes in humeral immune markers in the patients with β-thalassemia major compared to the controls, except in the case of IgA which was higher in the TM patients. It seems that there is no need for routine survey of immunoglobulins and complement levels in thalassemic patients in order to detect immunodeficiency.
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August 2011