Search

Objective (s): Estimating the mean number of visits of pregnant women to prenatal centers to use pregnancy cares in Tehran, Iran. Methods: This a descriptive-analytic observational study, considering the number of visits of pregnant women to prenatal centers in Imamam Khomaini and Shahid Akbar-abadi hospital in Tehran, Iran. 200 women visited these two centers during September 2000 for the first time that all were followed up to their delivery and later visits were counted for each woman. Results: Each pregnant woman had 9.7(±3.3) visits in average during their pregnancy until delivery. Of 200 women, only 28.5% had "enough number of visits". Correlation analysis identified that the number of follow up visits was related to age (at first) marriage (r=0.38, P =0.01), age at first delivery (r=0.37, P =0.01), number of previous pregnancies (r=0.32, P =0.01), number of live birth {r=-0.37 P =0.01), number of dead birth (r=-0.22, P =0.01), number of alive children (r=-0.36, P-value=0.01) and time interval from the last delivery (r=-0.24, P-value=O.O 1). Analysis of variance (ANOVA) revealed that the number of follow up visits is also related to four factors, education level and job of the pregnant women and her husband. The illiterate women or women with elementary education had in average. 7.3(±1.9) visits while women with high school diploma had 14.6(±1.6). Employed pregnant women had (mean of) 13.9(±2.6) visits comparing with the housewife’s that had only 8.7(±2.7). The stepwise multiple regression analysis showed that in presence of all variables, the best set of variables which are related to number of pregnant womenchr('39')s follow up visits are, educational level of woman and her husband, age at first marriage, and job of the husband. Conclusion: The middle socio-economic class women do not visit prenatal centers enough to take care of themselves during pregnancy. The best set of variables which are related to number of pregnant womenchr('39')s follow up visits are, educational level of woman and her husband, age at first marriage, and job of the husband.

Background: Chediak-higashi syndrome is a rare immunodeficiency (autosomal recessive) disorder that affects multiple systems of the body. It usually presents with occulocutaneous albinism, bleeding tendency and recurrent infections. Objectives: To presents different clinical manifestations of Chediak-Higashi syndrome. Study type, settings and duration: An observational study (case report) of three patients of Chediak-Higashi syndrome admitted at Boali hospital, Mazandaran University of medical sciences, Iran in 2012 and 2013. Patients and Methods: We described three cases of Chediak-Higashi syndrome with different clinical presentations. Results: First case was of an eighteen months old girl child admitted with fever and vomiting. Previously she had history of twice hospital admissions due to lower respiratory infection at the age of 2 weeks and 2 months. Physical examination showed hepatosplenomegaly multiple hypopigmentation on face and extremities, bluish iris and silver hair. Second case was of a two month's old baby girl suffering from hemophagocytic lymphohistiocytosis, also known as accelerated phase. On physical examination patient was febrile. She had bleeding tendency and hepatosplenomegaly. Important heamotological finding was pancytopenia. Third case was of a 23 month old boy admitted with recurrent otitis media and pneumonia. He had silver colour hair and skin (hypopigmentaion). Conclusion: Chediak-higashi syndrome is a rare primary immunodeficiency disorder with different clinical presentations. [ABSTRACT FROM AUTHOR]

There are conflicting reports about the benefits of zinc supplements in childhood asthma. This study examined the effect of zinc supplementation in children with asthma attending an outpatient clinic in Sari, Islamic Republic of Iran. In a randomized, double-blind, placebo-controlled clinical trial over 8 weeks, 284 children on inhaled steroids were allocated to receive zinc supplements (50 mg/day) (n = 144) or placebo (n = 140). Cases and controls had low initial serum zinc concentrations [61.8 (SD 7.3) µg/dL and 60.9 (SD 4.3) µg/dL]. After treatment, mean serum zinc level in the case group was significantly higher [129 (SD 20.4) µg/dL] than in the controls [63 (SD 8.6) µg/dL]. There were no significant differences in IgE levels before and after treatment. The case group showed significant improvements in clinical symptoms such as cough, wheezing and dyspnoea and in all spirometry parameters (FVC, FEV1 and FEV1/FVC). [ABSTRACT FROM AUTHOR]

Chronic spontaneous urticaria (CSU) is a skin disease caused by mast cells that produce inflammatory mediators. Immune checkpoint receptors such as program death-1 (PD-1) and T-cell immunoglobulin and mucin domain 3 (TIM-3) are essential for the pathophysiology of many autoimmune and allergic diseases. The aim of this study was to investigate the expression of PD-1 and TIM-3 in CSU patients and their relationship to the anti-inflammatory cytokines (TGF-β and IL-10). In the current study, peripheral blood mononuclear cells (PBMCs) from CSU patients and healthy individuals were used and the Urticaria Activity Score 7 (UAS7) was used to assess disease severity. TaqMan-based RT-PCR was used to assess the expression of TIM-3 and PD-1 as well as the anti-inflammatory cytokines transforming growth factor-β (TGF-β) and IL-10. The protein concentrations of TGF-β and IL-10 were also measured by ELISA. The relationship between the expression of TIM-3 and PD-1 as well as TGF- β and IL-10 and the severity of the disease was investigated. The results showed that PD-1 mRNA expression was significantly increased in CSU patients (P<0.0001), while TGF- β and IL-10 levels were higher in CSU patients, but this difference was not significant (p=0.638, p= 0.798). The increase in protein level of IL-10 was significant (P<0.0001). There was also a positive correlation between the expression of PD-1 and TGF- β molecules and disease activity (P=0.0043, P=0.0018). In conclusion, the study found that the immune system expresses inhibitory molecules and anti-inflammatory cytokines to control disease severity. The higher expression of PD-1 molecules and IL-10 is associated with disease severity, suggesting that the immune system is trying to control inflammation and reduce disease severity., Competing Interests: The authors declare that they have no conflict of interest., (© The Author(s).)

Background: Urticaria is a common itchy skin condition characterized by swelling and erythema. A variety of treatments is available today. The purpose of this study was to evaluate the clinical effects of probiotic use in patients with chronic resistant urticaria., Methods: This four-way blind randomized clinical trial was conducted between June 2019 and June 2020. Study population consisted of patients with chronic urticaria who did not respond well to first line treatment with antihistamines. For the intervention group, antihistamine (cetirizine) and probiotics (femilact capsule) and for the control group, antihistamine (cetirizine) and placebo were administered twice a day for 8 weeks. The "Urticarial Activity for 7 Days" (UAS7) questionnaire was used to assess urticaria activity and the Dermatology Life Quality Index (DLQI) questionnaire was used to assess the quality of life of patients., Results: Patients' age range was 7 to 30 years with a mean and standard deviation of 23.6±9.2 years. 31 (81.57%) cases were females and 7 (18.42%) cases were males. Twenty patients were in the intervention group and eighteen patients were in the control group. The mean scores of UAS7 questionnaire were reduced in both groups, but it was more significant in the intervention group (9.6±6.4) compared to the control group (12.7±8.1) at the end of week eight of treatment (P=0.036). Also, there was no significant difference in the quality of life between the two groups after 8 weeks (P=0.805)., Conclusion: This study showed that probiotic consumption along with antihistamines significantly improved the activity of urticaria but not the quality of life of patients., Competing Interests: None declared.

Background: It is well established that upper and lower airways are often clumped together when diagnosing and treating a disease. This study was designed to determine the prevalence of upper and lower airway diseases and to assess the effect of sociodemographic factors on the prevalence and the comorbidity of these disorders. Methods: This cross-sectional population-based study included patients with ages ranging between 15 to 65 years, who were referred to allergy outpatient clinics in various provinces of Iran from April to September 2020. A modified global Allergy and Asthma European Network (GA2LEN) screening questionnaire was filled out by local allergists of the 12 selected provinces in Iran. Information about the patients and sociodemographic factors was also recorded. Statistical analysis was done by univariate statistical analyses and multiple logistic regressions in SPSS software Version 26. Results: Out of 4988 recruited patients, 1078 (21.6%) had the symptoms of allergic rhinitis (AR) and 285 (5.7%) met the criteria of asthma. The prevalence of acute rhinosinusitis (ARS) and chronic rhinosinusitis (CRS) was 21.6 % and 22%, respectively. The highest prevalence of AR and ARS was in Tehran with the arateof of 33.9% each. Asthma was more prevalent in Khuzestan (14.2%) and CRS in Baluchestan (57.5%). Our analysis showed that the patients with asthma were most likely to have other allergic diseases as well-CRS (OR = 4.8; 95% CI, 2.02- 5.82), AR (OR= 2.5, 95% CI, 2.10-3), ARS (OR = 1.8; 95% CI, 2.10-3), followed by eczema (OR = 1.4; 95% CI, 1.13-1.67).We found that those individuals with CRS were most likely to have painkiller hypersensitivity (OR= 2.1; 95% CI, 1.21-3.83). Furthermore, smoking has been found more than 1.5 folds in patients with ARS. After adjusting variables, there was no correlation between education, occupation, and ethnicity with the studied diseases. Conclusion: Rhinosinusitis is a common condition among Iranian patients. This study confirmed that inflammation of the upper and lower airways can occur simultaneously. Gender, education, occupation, and ethnicity were found to be irrelevant in the development of either AR, asthma, ARS, or CRS., Competing Interests: The authors declare that they have no competing interests., (© 2022 Iran University of Medical Sciences.)

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) were 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&#95;196:g.189315dup;p.(Leu1052Profs*7)), and a splice region variant (LRG&#95;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 the risk of aneurysms in these patients, which have been rarely reported in these patients., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

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., (© 2021 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Background: Asthma is a chronic inflammatory respiratory disorder. Nutritional conditions affect allergic diseases such as asthma. The aim of this study was to review the serum zinc level in children with asthma., Methods: This is a review article found in databases such as Google, PubMed, SID, Irandoc, Scopus and up-to-date. Key words for search included zinc, asthma, children and pediatric. There was no time limitation for the search. These articles on zinc levels in asthmatic children were meta-analyzed., Results: Out of the 40 articles, 19 articles were excluded and 21 articles were included in this analysis. 15 articles evaluated serum zinc levels, 4 articles on hair zinc levels, one article evaluated nail zinc levels and another on zinc level in erythrocyte cells in children with asthma. Only 3 articles evaluated effects of zinc supplement treatment in children with asthma. Meta-analysis of studies showed that there was no significant difference between the standard mean differences of zinc level in asthmatic patients compared to the control group. We cannot analyze the association between zinc levels in hair and nail in children with asthma. All clinical trial studies show that zinc supplement improves clinical manifestations of asthma and patient's pulmonary function test., Conclusion: We found that the mean serum zinc level difference is not significant in children with asthma than healthy control group and it seems that there is no relation between mean serum zinc level and severity of asthma in children., (Copyright © 2020, Babol University of Medical Sciences.)

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 (with duration time of more than 6 weeks) compared healthy subjects., Methods: A total of 169 cases and 210 controls were included in this study. Ages ranged from 1 to 77 years old. Three samples were gathered from each patients and direct wet mount, formol-ether concentration, Ziehl-Neelsen and trichrome staining were used., Results: Out 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., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Purpose: Vertebral haemangiomas are incidental findings in imaging modalities. Atypical haemangiomas are haeman-giomas rich in vascular tissue, and they are found to be hypointense in T1 sequences and hyperintense in T2 sequences, mimicking the findings of metastatic lesions. In the present study we aim to evaluate the ability of diffusion- weighted imaging to differentiate these two groups of vertebral lesions., Material and Methods: In the present cross-sectional study, a total of 23 lesions were included, including 10 haemangiomas and 13 malignant lesions. Diffusion-weighted imaging was used to compare atypical haemangiomas and metastatic lesions. The apparent diffusion co-efficient was determined for each lesion, and then the mean of each group was calculated. The means were then compared. Receiver operating characteristic analysis was used to determine a cut-off ADC value to differentiate these lesions., Results: The difference between the mean age of the two groups was not significant. The mean ADC value for atypical haemangiomas was 1884 ± 74 × 10 -6 mm 2 /s and 1008 ± 81 × 10 -6 mm 2 /s for the malignant lesions. The difference between the two groups was statistically significant ( p < 10 -3 ). ROC curve analysis determined an ADC value of 958 × 10 -6 mm 2 /s to be able to differentiate between atypical haemangiomas and malignant lesions., Conclusions: Diffusion-weighted MRI could be used to differentiate between atypical haemangiomas and malignant metastatic lesions., Competing Interests: The authors report no conflict of interest., (Copyright © Polish Medical Society of Radiology 2020.)

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., (© 2020 S. Karger AG, Basel.)

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.

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.

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., (Copyright © 2018 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

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. Aspergillus fumigatus and Alternaria alternata 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., Competing Interests: Authors declare that there is no conflict of interest.

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.

Competing Interests: There are no conflicts of interest.

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., (Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.)

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., Competing Interests: None declared.

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.

Background: Since the number of mobile subscribers has significantly increased in recent years, the installation and deployment of Base Transceiver Station (BTS) antennas sending and receiving signals has become common and inevitable in different regions., Objective: In this study, we have tried to evaluate the effect of the waves on some immunological and hematological parameters in exposed individuals. In this study, the exposed and non-exposed individuals were used as the test and control groups, respectively., Methods: The test group was healthy people who resided in the vicinity of the Base Transceiver Station (BTS) antenna and received the maximum of radiation. The control group was selected from the healthy individuals that were matched with the exposed group by age. They resided in a distance of Base Transceiver Station (BTS) antenna and received the minimum of radiation. After stating complete explanations and obtaining the consent, the venous blood samples were taken from them. Then, CBC and the level of cytokines including IL-4, IL-10 and interferon γ were performed on the samples and the results were analyzed by SPSS software., Results: In the test group, the whole number of white blood cells, the level of hematocrit, percent of monocytes, eosinophils and basophils were significantly lower than the control group. The number of red blood cells, their average volume and the mean concentration of hemoglobin were notably higher than the controls. There was not observed a significant difference between the two groups in hemoglobin, its mean concentration, platelet count, percent of lymphocytes and neutrophils as well as serum levels of cytokines IL-4, IL-10 and interferon γ ., Conclusions: It seems that radiation of mobile phone antennas influenced the blood and immune systems, but further study should be done to exactly determine the targets.

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.

Background: Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders (PID), with a broad spectrum of clinical features ranging from severe and recurrent infections to asymptomatic disease., Objectives: The current study was performed to evaluate and compare demographic and clinical data in the most common types of PAD., Materials and Methods: We performed a retrospective review of the medical records of all PAD patients with a confirmed diagnosis of common variable immunodeficiency (CVID), hyper IgM syndrome (HIgM), selective IgA deficiency (SIgAD), and X-linked agammaglobulinemia (XLA) who were diagnosed during the last 30 years at the Children's Medical Center, Tehran, Iran., Results: A total number of 280 cases of PAD (125 CVID, 32 HIgM, 63 SIgAD, and 60 XLA) were enrolled in the study. The median (range) age at the onset of disease in CVID, HIgM, SIgAD, and XLA was 2 (0-46), 0.91 (0-9), 1 (0-26), and 1 (0-10) years, respectively. Gastrointestinal infections were more prevalent in CVID patients, as were central nervous system infections in XLA patients. Autoimmune complications were more prevalent in HIgM patients, malignancies in CVID patients, and allergies in SIgAD patients. The mortality rate for CVID, HIgM, and XLA was 27.2%, 28.1%, and 25%, respectively. No deaths were reported in SIgAD patients., Conclusions: SIgAD patients had the best prognosis. While all PAD patients should be monitored for infectious complications, special attention should be paid to the finding of malignancy and autoimmune disorders in CVID and HIgM patients, respectively.

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.

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.

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.