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The purpose of this study is to investigate the effect of air pollutants and noise on the prevalence of childhood asthma in Tehran, Iran. The standardized questionnaire was completed by one of the parents of children aged 6-7 years or by adolescents aged 13-14 years. The asthma prevalence in ages 6-7 and 13-14 was found to be 8.8% and 17.44%, respectively. A significant positive association was observed between "ever wheezing" and monoxide carbon (CO) concentration (OR=1.84, 1.05-3.25 in 13-14 years), the occurrence of 4 to 12 wheezing attacks and sulfur dioxide (SO2) concentration (Odds Ratio (OR)=1.39, 1.04-1.91) and particulate matter less than 2.5 micron (PM2.5) concentration (OR=1.38, 1.05-1.98 and OR=1.13, 0.98-1.39 in 6-7 and 13-14 years, respectively), as well as one night per week of sleep disturbances and nitrogen dioxide (NO2) concentration (OR=1.09, 1.03-1.16 in 6-7 years, respectively). It was also found that there was a significant interaction between the noise level and particulate matter less than 10 micron (PM10) level. Based on the findings, exposure to certain outdoor air pollutants and noise can affect prevalence of asthma symptoms in residence of Tehran. The simultaneous presence of air pollutants and noise has an aggravating effect on the prevalence of asthma symptoms. Therefore, controlling sources of pollutants for reducing asthma symptoms is suggested.

Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders. This study aimed to confirm the diagnosis of two cases of autosomal recessive hyper-immunoglobulin E (IgE) syndrome (AR-HIES), presenting with irreversible eye involvement. Two unrelated patients with suspected AR-HIES were referred to the Immunology, Asthma and Allergy Research Institute (IAARI), Tehran, Iran. Immunological screening tests were performed for AR-HIES, which showed elevated serum IgE levels, eosinophilia, and low T-lymphocyte responses. NGS was performed, and the results were confirmed by Sanger sequencing. Sequence analysis showed a mutation in intron 17 of the dedicator of cytokinesis 8 (DOCK8) gene in the first patient, and a homozygous three base-pair deletion in exon 45 of DOCK8 in the second patient. This is the first time such mutations are reported and these variants are predicted to be damaging. Both patients suffered from persistent viral infections along with cytomegalovirus (CMV) retinitis. Suspicion of these two novel DOCK8 mutations can benefit patients presenting with recalcitrant ophthalmic viral involvements and relevant immunological test results. This would lead to earlier referrals for immunologic and genetic confirmation and thus, a more timely intervention with hematopoietic stem cell transplantation (HSCT).

Exosomes are extracellular vesicles that are involved in intracellular communication and different biological processes. Recently, the importance of microRNAs (miRNAs) in exosomes has been considered as biomarkers in asthma diagnosis. This study aimed to determine the expression of selective miRNAs from plasma-derived exosomes in moderate and severe asthmatic patients compared with healthy controls. Forty-six subjects including 22 patients with severe and mild to moderate allergic asthma and 24 healthy controls have entered this study. MiRNAs were extracted from the plasma exosomes and selective miRNAs (miR-21, miR-16, miR-Let7, miR-148a, miR-155, miR-125, miR-150, miR-146a, miR-223, miR-126) expressions levels were determined; using quantitative polymerase chain reaction (qPCR). In this study, we found a significant up-regulation of miR-223 and miR-21 in moderate asthmatic patients compared to the healthy controls (p=0.002, p=0.006). MiR-223 and miR-21 had the probability of 83% and 76% diagnosis estimation in moderate asthmatic patients respectively. Therefore, they could be used as biomarkers in these patients.  No expression of miR-125, miR-126, and miR-155 was found in plasma exosomes by qPCR in this study. The other miRNAs had no significant expression between different groups. Based on our findings,miR-223 and miR-21 may be considered biomarkers or used for targeted immunotherapies in asthma.

This study aims to investigate the role of prenatal diagnosis (PND) in Iranian couples with a previous history of primary immunodeficiency disorders (PIDD) in their family. All referred couples with a family history of PIDD and a tendency for PND were included in this project. Based on gestational age, chorionic villus sampling (CVS) was performed to analyze the molecular defect of the fetus according to the previous gene defect of the affected case in the family. Postnatal confirmation was performed by immunological screening tests. In a total of 100 cases, CVS was not evaluated in 19 patients due to unwillingness (n=5), late prenatal referral (n=7), miscarriage before CVS (n=3), and female fetus with x-linked diseases in previous children (n=4). In the remaining 81 patients, heterozygous and homozygous mutations were found in 33 and 23 cases, respectively. The hemizygous mutation was obtained in 6 and no pathogenic mutations were found in 19 individuals. Postnatal evaluations revealed that a total of 65 babies were healthy, 32 fetuses were aborted (3 cases before CVS, 2 spontaneous abortions of a healthy and as affected fetus in the CVS subgroup, and 27 cases were aborted due to therapeutic causes). One fetus from the heterozygous subgroup was spontaneously aborted with severe combined immunodeficiency (SCID) and one fetus from the homozygous subgroup that was supposed to be healthy was affected by the autosomal dominant-chronic granulomatous disease (AR-CGD). The diagnostic error was 1.2%. PND is highly recommended in families with a history of PID in their previous child to prevent an affected baby being born and to reduce the government, family, and personal burden of these diseases.

In light of various supports of prodigious figures in the field of immunology and allergy, the subject area has been faced a great leap during the last century. The current state of the discipline owes an abundant appreciation for the scholars motivated in escalating the true nature of the science, who left no stone unturned in improving the general common sense and understanding of the human knowledge in general, and immunology and allergy in particular. Professor Reza Farid Hosseini is among the dignitaries who invested his life and energy on weaving the tapestry of the immunology and allergy. He delivered a great deal of influence on the field by his ethical devotion to science and was a significant contributor in the realms of the human immune system. His presence drastically rehabilitated the place of the Immunology in Iran, and the current paper seeks to review the personal and academic life of Professor Reza Farid Hosseini in honor and appreciation for his in-depth involvement in the field. The paper summarizes Professor Farid's childhood, school, and higher education, compilations, and translation of books, his contribution to the research both inside and outside of Iran, and scientific activities of Dr. Farid Hosseini.

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The advances in science and technology in recent decades, especially in medical sciences, have raised new ethical challenges. Hence, professional organizations in the field of medical science are trying to develop regulations in the field of medical ethics to help medical science professionals in making the best decisions in different circumstances and moral dilemmas. The organizations also try to monitor their performance using those regulations. On the other hand, due to the specialization of medical science as well as the complexity of communication between these disciplines, there is a growing need for regulations to answer questions and resolve the challenges of each discipline. Certainly, scientific societies, due to benefit from relevant specialists, are the best reference for the development of specialized guidelines, one of which is the Iranian Society of Asthma and Allergy (ISAA). The aim of the current study was to develop codes of ethics for ISAA members, using a qualitative study. Generally, the ISAA codes of professional ethics consists of general and specific sections. In order to compile the general section, the upstream medical documents, including the patients' rights charter in Iran, the research ethics guidelines approved by the Ministry of Health and Medical Education (MOHME), ethical codes from the international societies of asthma and allergy, the general codes of professional ethics of the Iran Medical Council and the Islamic jurisprudential rules and the statute law of the country were used. To develop specific sections, we interviewed the experts in the field of Asthma and Allergy about the ethical challenges they had ever faced with. The ISAA codes of professional ethics developed in five chapters, entitled "Ethical Guidelines for the Mangers and Director of the Society, General Guidelines, Specific Guidelines, Ethical Guidelines for Research and Education, and Procedure for Supervision on the Professional Behavior of the ISAA Members", and approved by the board of directors of ISAA.

Familial haemophagocytic lymphohistiocytosis (FHL) is a rare disorder of immune dysregulation. FHL inherited in an autosomal recessive pattern is classified into five subtypes based on underlying genetic defects. Mutations in four genes including PRF1, UNC13D, STX11 and STXBP2 are responsible for FHL2 to FHL5 respectively. The cause of FHL1 is associated with mutations in an unknown gene located at 9q21.3-22. This study aims to report the clinical features and genetic results of nine Iranian patients suffering from -haemophagocytic lymphohistiocytosis. Nine patients (five males and four females) suspected to FHL whose genetic evaluation of PRF1 and STX11 revealed no mutations, were entered the study to investigate UNC13D mutations. Primers were designed to amplify all coding regions and exon-intron boundaries of the gene. PCR products were then sequenced and analyzed by sequence analysis tools including BLAST. The most frequent clinical manifestations observed in the patients were fever and hepatosplenomegaly. In this study, five mutations were detected in UNC13D including four novel mutations (c.1434_1446delACCCATGGTGCAGinsTGGTGCT, c.1933C>T, c.1389+1G>C and c.2091+1G>A) besides to a previously reported deletion (c.627delT). The pathogenicity of the missense mutation was assessed using online prediction tools including SIFT and PolyPhen2. The study results may provide valuable information for genetic counseling especially for those who have a history of immunodeficiency diseases in their family and can be used for prenatal diagnosis.

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In this study, we first tried to determine whether the expression level of 9 miRNAs in the peripheral blood CD8+ T cells of asthmatic patients varies from that of controls, and secondly, we investigated the effects of fluticasone furoate and vilanterol on the expression level of these miRNAs. Fifteen subjects including 8 healthy individuals and 7 asthmatic patients were included in this study. CD8+T cells were isolated from participants' peripheral blood by a negative selection method using magnetic-activated cell sorting (MACS). The expression of 9 miRNAs was examined between the healthy individuals and asthmatic patients. Then the expression level of 9 miRNAs before and after treatment with the drugs was examined by quantitative real-time PCR. No significant changes in the expression level of 9 miRNAs were observed in asthmatic patients compared to the healthy controls. Fluticasone and vilanterol, in combination, had the greatest effect on miRNA expression. MiR-150 and miR-106a were the most and the least miRNAs, respectively, present in CD8+ T cells of patients and controls. MiR-106a and miR-126 had a positive correlation in CD8+ cells of asthmatic patients. Although no significant difference in the expression level of studies miRNAs was observed, the correlations among miRNAs were significant. Therefore, we suggest that the correlation between miRNAs would be a very important factor in physiological and pathological conditions in healthy individuals and asthmatic patients. Such a miRNA-miRNA correlation network can be even more critical than any changes in the variation of their expression in the CD8+ T cells.

The Chronic granulomatous disease (CGD) is a primary immunodeficiency that characterized by mutations in phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, resulting in deficient antimicrobial activity of phagocytic cells and recurrent childhood infections. Hematopoietic stem cell transplantation (HSCT) is a curative option for patients with human leukocyte antigen (HLA) matched donor, when conventional cares and therapies fail. However, in many cases when the patients have not an HLA-matched donor, they need to a method to recapitulate the function of the affected gene within the patient's own cells. Gene therapy is a promising approach for CGD. While, the success of retroviral or lentiviral vectors in gene therapy for CGD has been hampered by random integration and insertional activation of proto-oncogenes. These serious adverse events led to improvement and generations of viral vectors with increased safety characteristics. Gene therapy continues to progress and the advent of new technologies, such as engineered endonucleases that have shown a great promise for the treatment of genetic disease. This review focuses on the application of gene therapy for the CGD, the limitations encountered in current clinical trials, advantages and disadvantages of endonucleases in gene correction and modeling with CRISPR/Cas9 approach.

Allergic sensitization to inhalant allergens could be considered as a predictor in allergic diseases. The objective of this study was to assess IgE-mediated sensitization to inhalant allergens in allergic and non-allergic adults as well as the evaluation of its association with allergic diseases. This cross-sectional study was conducted from 2013 to 2016 in 604 allergic and 102 non-allergic adults selected from blood donor volunteers in Tehran, Iran. After taking informed consent, a standard questionnaire was filled to determine asthma, allergic rhinitis and/or conjunctivitis and atopic dermatitis in participants. Specific IgE assay to common inhalant allergens was performed for all subjects. Logistic regression analysis was used to evaluate the impact of IgE sensitization on allergic diseases. A total of 371(61.4%) allergic subjects and 41(40.2%) non-allergic patients were males. The weeds (especially saltwort) and grasses (particularly meadow fescue and ryegrass) were identified as the most common inhalant allergens. The prevalence of IgE sensitization to trees, weeds, and grasses was higher in subjects with allergic rhino-conjunctivitis and trees sensitization was a significant factor in them [OR=2.32, 95% CI (1.58-3.41)]. IgE sensitization to any inhalant allergens could be a predictor for allergic rhinitis, conjunctivitis and rhino-conjunctivitis in adults [OR=2.20, 95% CI (1.54-3.15], [OR=1.81, 95% CI (1.28-2.54)] and [OR=2.55, 95% CI (1.72-3.78)], respectively. With an increase in the sum of specific IgE concentrations, the prevalence of allergic conjunctivitis and rhino-conjunctivitis also increased. Our results showed the association between positive specific IgE and its concentration with some allergic diseases which could help physicians to prevent such diseases by recognizing and treating them, particularly in individuals with a positive family history of allergic diseases.

Aeroallergens play an important role in developing allergic diseases. The aim of this study was to determine the outdoor and indoor sensitization using a specific regional panel of aeroallergens in allergic patients. All patients with allergic symptoms referred to Immunology, Asthma and Allergy Research Institute (IAARI) in Tehran, Iran from December 2010 to July 2013 entered this cross sectional study. We evaluated serum samples for specific IgE against 20 selected aeroallergens provided by a specific panel (RIDA Allergy Screen test, IAARI panel). A p value less than 0.05 was considered as significant. The patients (n=602) were 49.8 % male and 50.2% female. The median age was 9 years. Positive specific IgE at least to one allergen was 53.2%. The percentages of patients with only outdoor or indoor sensitization were 37.5 and 19.7%, respectively. Moreover, 42.8% showed sensitization to both indoor and outdoor aeroallergens. The most common outdoor aeroallergens in decreasing order were plane tree (32.8%), Bermuda grass (32.2%), timothy grass (30.6%), saltwort (28.4%). The percentage of specific IgE to indoor allergens including mold and mite were 23.8 % and 22.2%, respectively. There was a statistically significant relationship between specific IgE to timothy grass and mold allergens between two genders (p=0.04 and p=0.02, respectively).The results of this study shows that outdoor aeroallergens can be considered as the most common causes of allergic symptoms in our allergic patients.

Asthma is a complex, heterogeneous and chronic airway inflammatory disease with different clinical phenotypes caused by diverse triggers and pathophysiological mechanisms. Asthma heritability has been established in many genetic studies but it is evident that only genetic elements are not responsible for the development of asthma. Increasing rate of asthma incidence during past decades has implicated the role of epigenetics in development of asthma. Environmental factors perform as initiator signals through epigenetic mechanisms. Three epigenetic mechanisms have been identified, including DNA methylation, histone modifications, and small noncoding RNAs. These mechanisms regulate the immune responses and inflammatory genes expression in asthma and allergy. This review explains the role of epigenetic modifications in controlling Th2 response and IgE production in asthma and also briefly overviews the role of environmental factors such as pollutions, allergens, prenatal exposures and diet in developing asthma. Recognizing environmental risk factors and their effects on epigenetic mechanisms would be of great interest for prognostic and preventive aspect in treatment of asthma.

In this study, we aimed to conduct a meta-analysis on the results of eligible studies to estimate the prevalence of asthma, COPD, and Chronic bronchitis in Iran. International and Iranian databases including PubMed, Scopus, Web of Science, Iranmedex, and scientific information database (SID) were searched for population-based studies that had reported the prevalence of asthma and COPD from 1990 to 2015. We conducted the meta-analysis using metaprop application of Stata statistical software. I-Squared was used for calculating heterogeneity among the studies. To determine causes of heterogeneity, subgroup analysis and meta-regression method were used. Based on the results of random effect method, the overall prevalence of asthma ever was 4.56% (3.76%-5.36%) among men while it was 4.17% (3.42%-4.91%) among women. Pooled prevalence of current asthma was 7.95% while confidence interval changed from 5.85% to 10.06% (men 5.83% (2.75%-8.92%), women 9.13% (3.35%-14.94%)). Also based on the results of random effect model pooled prevalence of chronic bronchitis of five studies was 5.57%. It seems that the total crude prevalence of current asthma in Iran is less than many other countries such as Kuwait, Lebanon, Thailand, Japan, Australia and Germany and is higher than some other countries such as Oman, Pakistan, South Korea, India, China, Taiwan, Indonesia, Spain, Russia, and Greece. On the other hand, Iran is in middle situation in terms of the prevalence current asthma. Our results can fill the information and knowledge gaps about the status of the prevalence of respiratory diseases in Iran.

Cow's milk allergy (CMA) is an immunological response to cow's milk proteins such as casein, α-lactalbumin and β lactoglobulin. The aim of this study was to determine the most common cow's milk allergenic proteins in patients with CMA and identify the most effective proteins in different allergic symptoms. Eighty seven patients (≤18 years) with allergy to cow's milk from 2006 to 2013 entered this study. They had a positive history of allergic reactions to cow's milk and a positive specific IgE test to whole cow's milk. The patients' symptoms were divided into four groups. Serum specific IgEs against four different main proteins of cow's milk were measured using RIDA Allergy Screen. Among 87 patients, 53 (60.5%) were male and the median age was 2.5 years. The frequency of respiratory, skin, gastrointestinal symptoms, and anaphylaxis were 63.3%, 55.7%, 20.3%, and 13.4%, respectively. Specific IgEs to total cow's milk protein (n=75, 89.3%), and the main Cow's Milk Proteins including α-lactalbumin (n=65, 77.4%), casein (n=64, 75.3%), β-lactoglobulin (n=52, 62.7%), and bovine serum albumin (n=35, 44.9%) were detected. Specific IgE tests to β-lactoglobulin were positive in 90% of the patients with anaphylaxis. Moreover, significant relationship was found between specific IgE to β-lactoglobulin and anaphylaxis (p=0.04). Although it is presumed that α-lactalbumin and casein are the most common allergenic proteins of cow's milk, in this study there is a significant relationship between the anaphylaxis and the presence of β-lactoglobulin-specific IgE. Therefore, more precautions are recommended due to possible anaphylactic reactions in patients with a positive test history for β-lactoglobulin specific IgE.

Hyperimmunoglobulin E Syndrome (HIES) is a complex primary immunodeficiency characterized by both immunologic and non-immunologic manifestations. High serum IgE level, eosinophilia, eczema, recurrent skin and lung infections constitute the immunologic profile of HIES, whereas characteristic facial appearance, scoliosis, retained primary teeth, joint hyperextensibility, bone fractures following minimal trauma and craniosynostosis are the main non-immunologic manifestations. The diagnosis of HIES cannot be made by routine immunologic tests. As the main characteristic laboratory abnormalities of this syndrome are highly elevated serum IgE levels and eosinophilia; both features have a broad spectrum of differential diagnosis. The purpose of this essay was presenting the best way for diagnosis management of HIES. Based on the genetic reports of patients of the Center for Chronic Immunodeficiency (CCI) as a single center experience, and applying project management (PM) in health care research projects, we sought the best way for a rapid diagnosis of HIES. The combination of project management principles with immunologic and genetic knowledge to better define the laboratory and clinical diagnosis lead to an improvement of the management of patients with HIES. These results are shown in one "Decision Tree" which is based on 342 genetic reports of the CCI during the past ten years. It is necessary to facilitate the diagnostic analysis of suspected HIES patients; applying project management in health care research projects provides a better and more accurate diagnosis eventually leading to a better patients' care. This Abstract was presented at 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), Prague, Czech Republic.

Asthma is a chronic inflammatory disorder of the airways, which is diagnosed by periodic symptoms of inflammation, bronchial spasm, and increased mucosal secretions. It has higher incidence among the preschool children. There are many contradictory reports based on the effect of asthma on oral health, however it has been hypothesized that asthma could lead to poor oral health. The objective of the present study was to investigate oral health indices in 44 preschool children of three to six years old with mild to moderate asthma and 46 matched healthy children in Tehran Children's Respiratory Center. Dental plaque, gingival inflammation, mouth breathing, and dental caries were evaluated by one trained examiner according to World Health Organization [WHO] criteria. Culture and colony counting of streptococcus mutans and lactobacillus species were carried out in saliva specimens of the patients. The effects of different factors on the colony counts were statistically analyzed using linear regression analysis. The level of mother's education and preexisting asthma disease in children had significant effect on the colony counts of streptococcus species whereas no factor was found to influence the number of lactobacillus counts significantly. The results indicated no significant differences between the children with asthma and those without asthma regarding (decayed, missing, filled, teeth) dmft index (mean of 3.34 in asthmatic children and 3.0 in the control group). Therefore, it can be deduced that the presence of asthma disease did not increase the probability of tooth decay.

Weed pollen grains belonging to the Asteraceae family contain a variety of allergens inducing type I and IV allergies in susceptible people. The aim of this research was to compare the allergenic properties of immature and mature Shasta daisy pollen grains (Chrysanthemum maximum Ramond) to define the potential role of the maturation process on the allergenicity of Asteraceae pollen grains. The immature (IP) and mature pollen (MP) grains were first studied by optical and scanning electron microscopand their protein contents were quantitatively and qualitatively analyzed. Pollen extracts were finally used to sensitize guinea pigs in order to obtain IP and MP specific antibodies. Nasal provocation tests using IP and MP crude extracts were also performed on pre-sensitized guinea pigs. The MP extract induced IgE and eosinophilia in blood and positive skin tests in sensitized guinea pigs. Moreover, high number of eosinophils was found in the nasal mucosa of MP sensitized guinea pigs. SDS-PAGE analysis of the IP and MP protein content showed seven and five apparent bands ranging from 7 to 66kDa respectively. According to immunoblot analysis, MP extract contained a single allergen of 66kDa. The overall results showed developmental processes of Shasta daisy pollen grains towards both morphological and molecular changes increasing their allergenic potency.

Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3. The aim of this study was to find different gene mutations responsible for SCN in Iranian patients. Twenty-seven patients with SCN referred to Immunology, Asthma and Allergy Research Institute during a five year priod 5 years (May 2007 and May 2012), were included in this study. Neutropenia related exons and flanking regions of ELA2, HAX1, WAS, GFI1, G-CSFR and G6PC3 were amplified by PCR and the sequences were analyzed. The results showed different mutations including 4 ELANE mutations, 11 HAX1 mutations and 2 G6PC3 mutations. None of the patients had GFI1 mutation and also one mutation was found in G-CSFR in a patient with ELANE mutation. Ten patients had unknown genetic diagnosis which was compatible with other studies. According to these results, most of the patients showed HAX1 mutations and this finding which significantly differed from other reports, might be related to differences in Iranian ethnicity and also in high rate of consanguineous marriages in Iran.

One of the most important goals in treating chronic diseases, especially asthma, is the promotion of quality of life (QOL). The present study aimed at identifying the effect of educating method on the QOL of children, who suffered from asthma.In this clinical trial study, 80 children aged 6-12 years with asthma were divided into two groups: control (face-to-face method) and experimental (visual concept mapping method). The QOL of both groups was measured before and after educating by the Juniper's Quality of Life Questionnaire with a one-month interval.The rate of change in the QOL score of the experimental group was 0.3 (±0.7) both before and after intervention and 0.1 (±0.3) in the control group, which was statistically significant (p<0.05).Educating by the visual concept mapping method with regard to the manner of using sprays is taken into account as an efficient and effective method in improving the QOL of children with asthma.

Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.

Allergic rhinitis (AR) is a common global health problem with approximately one quarter of the world population affected. The quality of life (QOL) of sufferers with AR is significantly affected. The aim of this study was to evaluate the QOL of adults with AR. This study was designed for adults with AR above 18 years old. The study was conducted using a valid Rhinitis Quality of Life Questionnaires (RQLQ) which was completed for each patient during clinic visit and analyzed by applying statistical methods. One-hundred and ten AR patients participated in this study. Mean age of these patients was 32 years old and 62% were female. The correlation between severity of AR and QOL impairment was significant. Frequencies of mild persistent, moderate-severe persistent, mild intermittent and moderate-severe intermittent types of AR were 18%, 34.5%, 9% and 38%, respectively. Completed RQLQ indicated that about 55% of the cases were suffering from severe disturbances in their QOL. Furthermore, congestion (88%) was the most common symptom. The correlation between congestion and QOL reduction was significant. The correlation between congestion and sleep impairment was significant. AR was more common in young as well as female patients and their QOL was affected more than the others. The results showed a good relevancy between severity of symptoms and QOL scores. Consisting with ARIA classification, it was found that reduction in the quality of life is higher in patients with moderate-severe intermittent and persistent asthma. Nasal congestion was a bothersome and prevalent symptom in AR that was responsible for sleep problems. Therefore, nasal congestion was associated with sleep-disordered breathing, nocturnal sleep impairment, day time fatigue and somnolence which finally lead to QOL impairment.

Cow's milk anaphylaxis is the most common food-induced anaphylaxis in Iranian children. The clinical and laboratory findings of cow's milk anaphylaxis are evaluated in this study. All children who had experienced cow's milk anaphylaxis and had been referred to Immunology, asthma and allergy research center during a 5-year period were considered. After fulfilling a questionnaire, patients underwent measurement of total IgE and cow's milk-specific IgE by Immunocap test and Skin prick test (SPT) with cow's milk extract. Patients with a convincing history and one positive cow's milk-specific IgE test (SPT or Immunocap test) and patients with both positive tests were enrolled, in this study.Out of 49 patients, 59.2% were male. Patients' mean age was 5 years old and their mean age at the time of first attack was 5.7 months (SD = 4.3). Most of the patients have experienced more than one episode of anaphylaxis (79.5%) and in 85.7% of all cases, first attack occurred during the first year of life. Severity grading 1-5 were 2%, 6.1%, 18.4%, 69.4%, 4.1% respectively. Most common manifestations were cutaneous 98%, Respiratory 91.8%, Gastrointestinal 55.1%, Cardiovascular 46.9% and neurologic 46.9% signs and symptoms respectively. Twenty four patients showed positive SPT. Mean total IgE was 239.6±3.3 (IU/mL) and mean cow's milk-specific IgE was 19.28±27.2 (IU/mL). Most patients showed reactions only after ingestion of cow's milk or after dairy foods (81.6%).It is concluded that cow's milk anaphylaxis may happen early in life. Regarding the severity of attacks and remarkable number of patients with several attacks, poor knowledge about this disorder is evident.

Severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from early infancy. Granulocyte colony stimulating factor (GCSF) is clinically used as a treatment for congenital and acquired neutropenia. The aim of this study was evaluation of GCSF (PD- Grastim) in treatment of these patients. Patients with severe congenital neutropenia referred to Immunology, Asthma and Allergy Research Institute between Jan 2007 and Dec 2010 enrolled the study. Other causes of neutropenia were excluded by serial CBC and bone marrow studies, medical and drug histories and immunological tests. Patients were visited and examined monthly to evaluate their CBC and ANC (absolute neutrophil count), GCSF side effects and dosage adjustment. Cytogenetic studies were being done for all the patients for early detection of progression to AML/MDS. From twenty two patients who enrolled this study, 16 patients regularly evaluated. They were ten males and six females, range in age from 2 to 18 years old. Two patients failed to continue our follow up unfortunately and four patients died due to disease complications. Patients were followed for 24 to 48 months. In a period of 12-24 months before treatment, the mean of hospitalization frequency was 3.1 times and duration was 10 days; while during receiving treatment, they decreased to 0.2 times and 3 days, respectively (p<0.01). Also significant increase in mean ANC was observed during follow up (315/µl before treatment versus 1749/µl after 12 month regular treatment). Bone pain was the most common side effect. There have been no evidences of developing AML/MDS up to present time. Treatment with GCSF significantly reduced the duration and the frequency of hospitalization. Because of plausible progression to AML/MDS, regular follow-up of patients should be continued.

SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).

The purpose of this study was to investigate any association between IgA deficiency (IgAD) and juvenile rheumatoid arthritis (JRA) among Iranian children.This case-control study was carried out on 83 children who were diagnosed as JRA according to American College of Rheumatology (ACR) criteria; Patients were admitted at the rheumatology clinic of Children's Medical Center, (Tehran). Serum immunoglobulins concentrations were determined by nephelometry method. Control group was 112 healthy children who were matched for age and gender. Informed consent obtained from all parents.Selective IgA deficiency (sIgAD) was found only in a boy (1.2%) among JRA children; however, partial IgA deficiency was found in 6(7.1%) of patients with JRA and in 12(10.7%) of control subjects, this difference was not statistically significant (p=0.46). Immunoglobulins levels in patients with JRA (IgM: 126.7±57.2, IgG: 1182.3±351 and IgA:169.3±98) were significantly higher than their controls (IgM: 104±52, IgG:802±220 and IgA: 94.6±47) (p<0.05). Patients with growth failure had higher IgM, IgG and IgA levels in comparison with patients without growth failure; however, this difference was significant about IgM and IgG levels (p<0.05).In contrast to other similar studies, the number of IgAD did not differ significantly between JRA patients and their control counterpart; this might be partly due to the high rate of consanguineous marriages in Iran that resulted in increased prevalence of clinically undiagnosed partial IgAD in general population. Hence, future epidemiological studies are warranted to make it clear.

Despite preliminary evidence, the role of probiotic and synbiotic in treatment of the atopic dermatitis has shown varying results. We aimed to evaluate whether synbiotic supplementation decrease severity of atopic dermatitis (AD) in childhood. In a randomized double blind-placebo controlled trial, we evaluated the synbiotic supplementation efficiency on the treatment of atopic dermatitis. Infants aged 1-36 months with moderate to severe atopic dermatitis were randomized (n=41) and received either synbiotic (probiotic plus prebiotic) (n=20) or placebo (n=21) daily as a powder for two months. Emollient (Eucerin) and topical corticosteroid (Hydrocortisone) were permitted. Children were scored for severity of atopic dermatitis (SCORAD). Also allergen Skin Prick Tests (SPT), IgE blood level and eosinophil count were measured at first visit. Patients' SCORAD were reevaluated at the end of intervention. We followed 36 out of 41 subjects for two months (drop out rate = 9%). In the whole group, the mean Total SCORAD (at base line 40.93) decreased by 56% (p=0.00). The mean Objective SCORAD (at base line 31.29) decreased by 53% (p=0.00). There was no significant difference in the mean decrease of total SCORAD between placebo (22.3) and synbiotic groups (24.2). There was also no difference between two intervention groups in the mean decrease of total SCORAD regarding to different demographic, clinical and para clinical subgroups. This study could not confirm synbiotic as an effective treatment for childhood atopic dermatitis and further studies are needed. These findings challenge the role of synbiotics in the treatment of childhood atopic dermatitis.

Hematopoietic cord blood (CB) stem cell transplantation has more advantages to other cell sources because of lower Graft Versus Host Disease (GVHD). Interleukin-15(IL-15) is an immunoregulatory cytokine, known to enhance cytolytic function of cord Natural Killer (NK) cells. The aim of this study was to investigate the effect of IL-15 on NK cytotoxicity simultaneously in different cell death stages. We compared the ability of IL-15 to enhance the NK cytotoxicity of CB in comparison to adult blood Mononuclear Cells (MNCs) against K562 target cells by co-staining with AnnexinV-FITC and Propidium Iodide after 3.5 h incubation at 37 °C and 5% CO₂ by using flow cytometric method. We also evaluated phenotypic changes after treatment by IL-15 in both cell sources. Our results indicated that CB samples had lower level of apoptosis, while necrosis was negligible; also by escalating Effector: Target (E: T), we got higher level of apoptosis and necrosis in peripheral blood (PB). NK activity of cord and adult MNCs was enhanced by incubation with IL-15 (10 ng/ml) for 72 h with significantly higher results of PB in comparison to CB (p<0.0001). Moreover, IL-15 increased the percentage of CD3-/CD56+ and CD25+ cells after 72 h incubation. Results showed incubation with human recombinant (hr) IL-15 for 3 days increased NK activity. Taken together, these results indicated that NK cytotoxicity of CB MNCs could be augmented by human recombinant (hr) IL-15, but this activity did not reach to same level of PB counterparts. We established that CD25 expression on CB MNCs could be increased with IL-15, in 72-hour cultures, but to a lesser degree compared to that on corresponding adult PB MNCs.

Clinical asthma and airway responsiveness appear to be less severe when diabetes is superimposed. The aim of the present study was to determine the possible role of Nitric Oxide (NO) in the airway reactivity under diabetic and diabetic-allergic conditions. Twenty-five male guinea-pigs were divided into five groups of five each as follows: diabetic, antigen sensitized, diabetic- antigen sensitized, insulin-treated diabetic- antigen ovalbumin sensitized and control animals. Tracheal rings of all groups were mounted in an organ bath system for isometric contraction measurements. Tissues were pre-incubated with either of the following chemicals: L-NAME, L-arginine or methylene blue. Cumulative concentration response curve was made with histamine. Decrease in the airway reactivity in diabetic and diabetic- antigen sensitized animals were shown compared to the antigen sensitized animals. pEC(50) values of histamine in the presence of L-Arg showed increase in diabetic and diabetic- antigen sensitized animals compared to the controls. In the presence of methylene blue, these values showed an increase in diabetic and diabetic- antigen sensitized animals compared to the controls. However, incubation with L-NAME did not change the airway responsiveness to histamine in diabetic and diabetic- antigen sensitized animals compared to the controls. Experimental diabetes causes were found to decrease the responsiveness of tracheal rings in the presence or absence of allergy. Findings of this research work showed that NO had no role in hypo-responsiveness of airway in diabetic and diabetic- antigen sensitized animals.

FcepsilonRI, The high affinity receptor for IgE plays a critical role in triggering the allergic reactions. It is responsible for inducing mast cell degranulation and deliberation of allergy mediators when it is aggregated by allergen and IgE complexes. FcepsilonRI on the mast cells consists of three subunits; alpha chain directly binds IgE, beta chain and dimmer of gamma chains together mediate intracellular signaling. Cross-linking of IgE-bound FcepsilonRI on the surface of mast cells and basophils by the multivalent antigen induces release of chemical mediators. The present in vitro study was designed to investigate the effect of synthetic FcepsilonRI-alpha siRNA on the antigen-induced activation of MC/9 cells. MC/9 cells which are murine mast cells were transfected by FcepsilonRI-alpha siRNA and negative control siRNA. After 6 h, anti-DNP (Dinitrophenyl) IgE was used for the cells sensitization. Then the cells were challenged with Dinitrophenyl-Human Serum Albumin (DNP-HSA) for mast cell degranulation induction before collection of supernatants. The amount of mRNA and protein expression was measured by Real Time PCR and western blot analysis, respectively. Determination of the expression rate of FcepsilonRI-alpha on cell surface was achieved by flow cytometry. ELISA and spectrophotometry methods were used subsequently for measuring the effects of FcepsilonRI-alpha siRNA on antigen-induced histamine and beta-hexosaminidase release. FcepsilonRI-alpha siRNA treated cells showed significant decrease in FcepsilonRI-alpha mRNA and protein expression in comparison to control cells. FcepsilonRI-mediated mast cell release of beta-hexosaminidase and histamine were also inhibited. In this study it was shown that FcepsilonRI-alpha siRNA could suppress FcepsilonRI-alpha expression and inhibited degranulation and histamine release in antigen-stimulated MC/9 cells. In conclusion, knock-down of FcepsilonRI-alpha by siRNA could be a promising method for inhibition of the mast cell-mediated allergic reactions.

X-linked Agammaglobulinemia (XLA) is a hereditary immunodeficiency, characterized by an early onset of recurrent bacterial infections, hypogammaglobulinemia and markedly reduced B lymphocytes number. In order to determine the association of neutropenia among Iranian patients with XLA, hospital records of 30 patients with confirmed XLA in Children Medical Center Hospital, were reviewed. Eight out of 30 XLA patients (26.7%) developed neutropenia during the course of the disease. In two patients, episodes of neutropenia were identified before or at the time of diagnosis of XLA. Other six patients whom were not visited regularly and did not receive periodical immunoglobulin replacement therapy experienced neutropenia after diagnosis of XLA. Neutropenia in XLA is mainly associated with infection and is resolved with intravenous immunoglobulin replacement and antibiotics therapy.

Selective IgA deficiency (IgAD) (serum IgA concentration of <0.07 g/l) is the most common primary immunodeficiency in Caucasians, with an estimated prevalence of 1/600. There are strong indications for involvement of genetic factors in development of the disease and the frequency of several extended major histocompatibility complex haplotypes (including HLA-A1, B8, DR3, DQ2) have previously been shown to be increased among Caucasian patients with IgAD.PCR was used to type HLA B, DR, and DQ alleles in 29 Iranian individuals with IgAD and 299 Swedish individuals with IgAD.The results indicate a strong association with the HLA B14, DR1 alleles in Iranian subjects and HLA B8, B12, B13, B14, B40, DR1, DR3, DR7, DQ2 and DQ5 alleles in Swedish subjects.Differences in HLA association of IgAD in Iran and Sweden confirm the notion of a genetic background of the disease and that multiple, potentially different genes within the MHC region might be involved in the pathogenesis of IgAD in different ethnic groups.

Asthma is a complex and multifactorial disorder. Several studies have reported association between different HLA- DQB1 and HLA- DRB1 alleles and allergic asthma. The aim of the present study was to investigate the association of HLA-class II alleles and haplotypes, with total serum IgE and the results of the skin prick test in Iranian children with allergic asthma. A total of 112 patients with allergic asthma symptoms (75 males and 37 females) were selected randomly from the pediatric hospital. In some patients total serum IgE and prick test were determined. Data of this study shows that HLA-DRB1*12 significantly increased in asthmatic patients (4.5% vs. 0%, P-value=0.04). HLA-DQB1*0603 and 0604 alleles were significantly higher in asthmatics than those in normal controls (10% vs. 0%, P-value= 0.0001; and 9.3% vs. 3.7%, P-value= 0.04, respectively). The statistical significance was relinquished after p value correction for all alleles except for HLA-DQB1*0602 (Pc=0.03) and HLA-DQB1*0603 (Pc=0.0015). Conversely, HLA-DQB1*0501 and 0602 were decreased in asthmatics compared to normal controls (7.5% vs. 13.5%, P-value= 0.05; and 4% vs. 12.5%, P-value= 0.002, respectively). The mean of total IgE in patients was 483 IU, and it was significantly high about 1140 IU in asthmatic patients with positive skin prick test to house dust. The most frequent alleles in asthmatic patients with the total IgE>200 IU/mL were HLA-DRB1*11and 1401, HLA-DQA1*0505, HLA-DQB1*0301 and in patients with total IgE<200 IU/mL were HLA-DRB1*0301, 07 and 1301, HLADQA1*0201 and 0301, HLA-DQB1*0201. These data suggests that HLA-DRB1, DQA1 & DQB1 alleles and haplotypes might be implicated in susceptibility to allergy and asthma and serum IgE production. As asthma and atopy are multifactorial disorders, probably HLA genes are involved in the regulation of immune specific responses to common allergen.

Selective deficiency of immunoglobulin A (IgA) is the most frequent primary hypogammaglobulinemia. As some IgA-deficient patients have IgA antibodies in their plasma which may cause anaphylactic reactions, blood centers usually maintain a list of IgA-deficient blood donors to prepare compatible blood components. In this study we determined the incidence of selective IgA deficiency (SIgAD) in normal adult Iranian population. 13022 normal Iranian blood donors were included in this study. The assay which we used was adapted to the manual pipetting system and ELISA reader was used for screening. Other classes of immunoglobulins (G, M), as well as secretory IgA and IgG subclasses were tested in IgA deficient cases by ELISA. SPSS was used for statistical analysis.Among 13022 studied cases, 11608 blood donors were males (89.14%) and 1414 were females (10.86%). Their mean (+/-SD) age and weight were 38.5+/-11 years and 82+/-12 Kg respectively. Twenty of the screened samples were found by means of ELISA to be IgA-deficient (less than 5mg/dl), (frequency; 1:651). The data could indicate a compensation for IgA deficiency by serum IgM in one of our IgA deficient cases (Patient 5). We observed a correlation between IgG3 and serum IgA in deficient cases (r=0.498, P=0.025). Our results indicate that in present study the prevalence of S IgA D is in agreement with data from other Caucasians populations (from 1:300 to 1:700). In conclusion, Selective IgA Deficiency could be almost asymptomatic in most cases in general population. Our study suggests that; due to high frequency of IgA deficiency in Iran, it seems necessary to measure IgA levels for every blood donor and blood recipient to find IgA deficient cases.

Common Variable Immunodeficiency (CVID) is a heterogeneous group of disorders characterized by hypogammaglobulinemia and an increased susceptibility to recurrent infections as well as autoimmunity and malignancies. Idiopathic Thrombocytopenic Purpura (ITP) and Autoimmune Hemolytic Anemia (AIHA) are two autoimmune disorders which may be seen in association with CVID. Among 85 CVID patients, seven cases had ITP and/or AIHA (8%). Four of these patients had one or more episodes of ITP, one patient had AIHA, and two patients had both ITP and AIHA (Evans syndrome). Almost, all patients experienced chronic and recurrent infections mostly in respiratory and gastrointestinal systems during the course of the disease. Among the seven patients, five presented their underlying disease with recurrent respiratory and/or gastrointestinal tract infections, while in two remaining patients, CVID was presented with ITP. Three patients died until now; two because of hepatic failure and one due to pulmonary hemorrhage. As CVID is prone to autoimmune disorders, it should be considered as a differential diagnosis of adult-onset ITP and possibly in children. Chronic and recurrent ITP, especially in the presence of propensity to respiratory and gastrointestinal infections mandate the evaluation for an underlying immune dysregulation such as CVID.

Garlic is known as a potent spice and a medicinal herb with broad therapeutic properties ranging from antibacterial to anticancer and anticoagulant. Our previous studies have shown some immunoregulatory effects for aged garlic extract, suggesting a key role for 14-kD glycoprotein of garlic in shifting the cytokine pattern to T helper-1. In present study, we investigated the effect of 1, 2, and 3 times intraperitoneal injections of aged garlic extract on an established allergic airway inflammation in murine model (BALB/c mice). The garlic extract, isolated by biochemical method, includes proteins precipitation by ammonium sulfate. After injection of the aged garlic extract, IFN-, anti allergen specific IgE and IgG1 were measured in lavage and serum by ELISA and histological assessment was performed on the lung tissues. The results indicated that three-time intra peritoneal injections of the aged garlic extract caused a significant decrease in the hallmark criteria of allergic airway inflammation levels which included eosinophil percentage in lavage, peribronchial lung eosinophils, IgG1 level in lavage and serum, mucous producing goblet cells grade and peribronchial and perivascular inflammation. Our findings in the present research suggested that aged garlic extract has the potential of attenuation of inflammatory features of allergic airway inflammation in murine model.

The human leukocyte antigen-B27 is one of the class I molecules of the major histocompatibility complex which is strongly associated with ankylosing spondylitis (AS). The strength of the disease association with B27 varies markedly among racial and ethnic populations. It is an allele family, which constitutes about 31 subtypes, with a considerable geographic and ethnic difference in distribution. It is important to know whether certain subtypes show any preferential association with AS. Because there is no report regarding HLA-B27 subtypes in Iranian patients with AS, the main purpose of the present study was to assess the frequency of subtypes of human leukocyte antigen (HLA)-B27 in patients with ankylosing spondylitis in Iranian populationOne hundred and nineteen AS patients (82 HLA-B27 positive and 37 HLA-B27 negative) were selected for this study. HLA-B27 positive patients were screened by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) for B*27 subtyping.The results of present study revealed that only two subtypes were detected in Iranian patients, including B*2705 (52 patients, 63.4%) and B*2702 (30 patients, 36.6%). Our results showed a restricted number of HLA-B27 subtypes associated with AS in Iran and an elevated frequency of the B*2705 allele in these patients similar to other Euro-Caucasoid (Aryan) groups in the world.

During past few years, the Cupressus arizonica has been abundantly planted in Tehran, causing a significant increase of allergic diseases from the middle of winter to the beginning of spring. The aim of this study was the comparison of pollen protein content in two major varieties of C. arizonica planted in Tehran, including C. arizonica var. arizonica and C. arizonica var. glabra, in order to determine pollen's specificity of each variety and also to find out whether environmental conditions can influence pollen protein contents and its allergenic components. Pollen grains were directly collected from mature male cones of trees planted in different areas of the city. Pollen's proteins were extracted, and were analyzed by SDS PAGE. Total protein content of pollen extracts was measured by Bradford assay. Our investigations revealed noticeable differences in protein content of each variety. Bradford protein assay showed a higher total protein content in C. arizonica var. arizonica pollen extracts. A new major protein, with an approximate molecular weight of about 35 kDa was detected in both varieties. Immunoblotting using the serum of a cypress allergic subject showed that the protein with 35 kDa was also the major allergen of both varieties in pollen extracts. These results showed that there are some intraspecie specificities in Arizona cypress pollens. The major allergen of Cupresuss arizonica pollen, Cup a 1 (45 kDa), has been reported as the most representative protein in pollen extracts of Mediterranean countries, but in our autochthon extracts of both varieties, a protein band at 35 kDa was more representative. These observations seem to indicate that C. arizonica pollen protein content may be influenced by environmental conditions. Moreover, Immunoblot results provided a reliable indication on the allergenic activity of this new major protein band at 35 kDa. The confirmation of these aspects would facilitate the preparation of an effective extract, improving the diagnosis of the allergy to the Cupressus arizonica pollen.

Common variable immunodeficiency (CVID) is the most common symptomatic primary antibody deficiency, characterized by reduced serum immunoglobulins levels and increased susceptibility to recurrent pyogenic infections. In this study, we evaluated CD40 ligand expression on stimulated versus unstimulated T-helper lymphocytes of nine Common variable immunodeficient patients in comparison with fifteen normal controls. Phorbol myristate acetate (PMA) and Ionomycin were used to stimulate cells in vitro. After six hours stimulation, the cells were subjected to surface staining with three-color staining procedure. Events were analyzed by flow cytometer, using FloMax software. Results were reported as the percentage of lymphocytes expressing CD markers. We did not find any significant statistical difference in CD40 ligand expression between patients and controls (p > 0.05), despite having stimulation documented by CD69 expression as activation marker in each run. The results of this study are in agreement with some other studies, indicating that CD40 ligand expression on stimulated T-helper lymphocytes of Common variable immunodeficiency patients is similar to normal controls.

Hyper-IgM syndromes are characterized by profound reduction of serum IgG, IgA, and IgE levels with normal or increased concentrations of serum IgM. CD40 ligand deficiency is X-linked form of the disease, which results in a lack of immunoglobulin class switching from IgM to IgG in B cells. In addition to the recurrent infections, a number of patients suffer from neutropenia. There are some evidences indicating the effect of G-CSF in combination with intravenous immunoglobulin (IVIG) in improvement of neutrophil counts, which has become the most common procedure to control neutropenia. In this report we present a 6 year-old patient of CD40 ligand deficiency, who suffered from chronic, severe neutropenia. Administration of IVIG was started for him when the diagnosis was made at the age of 1.5 years and he was on the regular IVIG therapy after that time untill now for a period of 4.5 years. IVIG and prophylactic antibiotic therapy, despite cessation of granulocyte colony-stimulating factor, injection after one month, corrected the severe neutropenic state of this patient. It seems that regular administration of sufficient doses of IVIG can be useful in the management of neutropenia in CD40 ligand deficiency, which results in better quality of life with decreasing occurrence of infection.

Magnesium (Mg) is the second most abundant intracellular cation and is involved in numerous physiological functions, including protein folding, intracellular signaling and enzyme catalysis. It has been shown that magnesium deficiency exacerbates pulmonary airways hyper reactivity. Several studies suggest that magnesium level has no effect on asthma but others had shown a contributory effect. Because of its intracellular abundance the aim of this study was to determine if there was any difference in plasma and intracellular Mg concentrations of children with acute asthma compared to non asthmatic children. Twenty nine patients with acute asthma aged 2 to11 years admitted to the emergency department of hospital and 37 non asthmatic children with the same age were included in our study. 0.5 mL of heparinized whole blood samples of patients who were meeting inclusion criteria at the onset of admission with bronchoconstriction and before using any medication was drawn and it was immediately sent to the laboratory. Plasma and erythrocytes were separated and stored at -20C and later their Mg levels were quantified with atomic absorption spectrophotometry method. The average plasma and intracellular magnesium levels in patients were (0.79 +/- 0.098 mmol/L) and (1.17 +/- 0.27 mmol/L) respectively. Results of 37 non asthmatic persons [plasma (0.85 +/- 0.1 mmol/L ) and erythrocytes (1.33 +/- 0.21 mmol/L)] showed that there was no significant difference between plasma Mg levels in two groups (p 0.06) but intracellular magnesium level was significantly lower (p 0.03) in patients group. These results indicate that intracellular Mg level may be a more accurate method to assess Mg level in patients with asthma. Hence, determination of Mg concentration in erythrocytes may be used in evaluation of asthma pathophysiology. There are recommendations for using intravenous Mg sulfate in acute asthma, and this study supports the rational for using it in emergency departments for acute severe asthma.

Primary immunodeficiency diseases (PIDs) are rare but include severe conditions found predominantly in children, Most PIDs have cutaneous manifestations that may be important as early diagnostic features. The purpose of this study was to determine the frequency and nature of cutaneous alterations associated with PIDs. This article is a cross-sectional study at the department of allergy and clinical immunology of children's medical center conducted between December 5, 2001 and April 20, 2002. The subjects included pediatric patients with a diagnosis of PID and dermatological diagnoses were made by a dermatologist. Two hundred and ten patients were studied They consisted of 68 cases of humoral deficiency, 22 cases of cellular and combined deficiencies, 57 cases of phagocytic defects and 63 cases of other PIDs. In 67 cases (31.8%) the cutaneous alterations preceded and were the basis for clinical immunological diagnosis. Overall cutaneous alterations were infections in 99 cases and eczematous dermatitis in 27 cases. Our findings support the results of other studies that most PIDs have cutaneous features which being their typical aspects are highly suggestive for the diagnosis of PIDs.

Interest in the impact of illness on day to day function is leading investigators to include both disease specific and generic health related quality of life (HR QOL) questionnaires in a broad range of clinical studies and to gain a full picture of the impact of asthma on the lives of children with this condition, it is necessary to make direct measurement of health related quality of life. In response to this need, we used the Juniper's pediatric asthma quality of life questionnaire (PAQLQ) and Juniper's Pediatric Asthma Caregiver's Quality of Life Questionnaire (PACQLQ) that has been developed based on guidelines for construction of over a dozen validated disease specific quality of life instruments. The PAQLQ consists of 23 items that in children with asthma have been identified as troublesome in their daily lives and PACQLQ that contains 13 items in two domains of emotional and activities disturbances. The study design consisted of an 18 month single cohort study. Patients participating in the study were 113 children, 7-17 years of age, with a wide range of asthma severity and their caregivers. For each patient a PAQLQ and for each caregiver a PACQLQ was completed. One week before visit patients recorded morning peak flow rates, medication use and symptoms in a diary. After complete physical examination, for determining of asthma severity, spirometry was performed. The questionnaires after statically analysis showed good levels of both longitudinal and cross sectional correlations with the conventional asthma indices and with general quality of life. We found that consistently QOL in boys were more disturbed than females, a good relevancy between severity of asthma and QOL scores and more disturbances of QOL in caregivers of male asthmatic patients than caregivers of female asthmatic patients. We could not find any significant relevancy between FEV1 percentage of predicted and overall scores of QOL. Smaller airways, and higher airway resistance and more activity of males than females may explain why boys have more disturbed life style than females.

The primary immunodeficiency (PI) disorders are abnormalities in development and maturation of the immune system. Individuals with PI disease may experience frequent infections, which limit their abilities to exhibit physical and psychological well-being secondary to their illness. In this survey we compared health-related quality of life of primary immune deficient patients with healthy children. The case-control study was designed for patients with PI disease who were referred to Children Medical Center in 2004-2005. Demographic information was taken and Pediatric Quality Of Life (PEDQOL) questionnaire were filled for 50 PI patients and 100 healthy children. The mean age in PI patients was 12.62+/- 3.65 (range from 8 to 18) years and in the control group was 11.04+/- 3.3 years. In PI patients 68% were male and 32% female .Most patients with PI disease had a diagnosis of common variable immunodeficiency (54%) or X-linked agammaglobulinemia (24%). Patients with PI disease had great limitations in physical functioning and psychological well-being (p<0.001 and p<0.001 respectively) compared with children without a chronic health condition. Patients had lower PEDQOL scores in all age groups compared with normal sample (p<0.001). Long duration of disease significantly correlated with low psychological score. (r =-3.23. P= 0.03) Children with PI disease experience poorer health related quality of life than healthy children, indicating more attention should be paid to early diagnosis and treatment of PI disease, as well as more attention to their social limitation. PI patients may need psychological consultation for better coping with their illness.

In this study, we report a mutation in CYBB gene in a patient with X-CGD (diagnosed on the base of family history, NDT test, DHR 123 assay). Mutation in CYBB gene was detected using SSCP analysis (single-strand conformation polymorphism) followed by sequencing. During screening for mutations in the CYBB gene we observed 880 CT in exon 8. This mutation resulted in 290 ArgStop. We also observed a change (-270 CA) in the promoter region which needs further investigation.We would like to pursue this study by analyzing more X-CGD patients to find out the CYBB mutation spectrum in Iranian patients.

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (Btk) gene. In order to identify the mutations in Btk gene in Iranian patients with antibody deficiency, 13 male patients with an XLA phenotype from 11 unrelated families were enrolled as the subjects of investigation for Btk mutation analysis using PCR-SSCP followed by sequencing. Five different mutations were identified in 5 patients from 5 unrelated families. Three mutations had been reported previously including TTTG deletion in intron 15 (4 bps upstream of exon 16 boundary), nonsense point mutation (1896G>A) that resulted in a premature stop codon (W588X) in kinase domain, and nucleotide alteration in invariant splice donor site of exon12 (IVS12+1G>A). While 2 novel missense mutations (2084A>G, 1783T>C) were identified leading to amino acid changes (I651T, Y551H). The results of this study further support the notion that molecular genetic testing represents an important tool for definitive and early diagnosis of XLA and may allow accurate carrier detection and prenatal diagnosis.