Primary immunodeficiency disorders (PID) are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. A total of 930 patients (573 males and 357 females) are ...registered in Iranian PID Registry (IPIDR) during three decades. Predominantly antibody deficiencies were the most common (38.4%), followed by congenital defects of phagocyte number and/or function (28.3%), other well-defined immunodeficiency syndromes (17.7%), combined T- and B-cell immunodeficiencies (11.0%), complement deficiencies (2.4%), and diseases of immune dysregulation (2.3%). Common variable immunodeficiency was the most frequent disorder (20.8%), followed by chronic granulomatous disease, ataxia-telangiectasia, btk deficiency, selective IgA deficiency, and T-B-severe combined immunodeficiency. The frequency of other PID disorders was less than 50 in number (<5%). There is an increasing trend in recognition of more PID in the recent years. Construction of such registry is not only important for its epidemiological aspect but also for its role in increasing the physician's knowledge about such disorders.
Objective: The practice of breastfeeding is considered a blessing since its effects on health are well recognized and applies to both mothers and infants. The objective of this study was to evaluate ...the effectiveness of peer support and training on breastfeeding initiation, duration and exclusivity.
Materials and methods: This community-based clinical trial, (IRCT No: 201504049568N12), was conducted during 2015 in the Municipality of Tehran 19 District. First, a total of 150 mothers with their infants from 4 to 20 months of age were asked to complete a questionnaire, which included the demographic characteristics, educational level, and the type of lactation, the initial age of infant for breastfeeding, and the duration of exclusive breastfeeding. Afterwards, 25 volunteer women were selected for lactation counseling. After 6 months, another sample of 116 nursing mothers in the region who had received peer counseling was selected and questioned through the previously mentioned questionnaire. Finally, the results, which were collected from the behavior of the target population before and after the intervention, were compared.
Results: The results of the present study indicated that the nursing mothers who received peer counseling proved to have longer durations of breastfeeding (P-value = 0.039), and higher frequency of first hour initiation of breastfeeding (P-value = 0.003) however, the volunteer counselors were mainly housewives who had lower levels of education (P-value = 0.009) and were younger (P-value = 0.009) than those of untrained control group.
Conclusion: The study demonstrated the significant effect of peer counseling on breastfeeding initiation and continuation. It is suggested that lactation training could be initiated during the prenatal period along with the conventional methods of training.
Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 ...subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1. Four pregnant women with five fetuses (one pregnancy was twin) with clinical and laboratory diagnosis of LAD-1 in their previous children were studied. The chorionic villus sampling (CVS) was obtained when mothers were in 10-12th weeks of gestation. Mutation analysis of ITGB2 gene for affected children revealed 3 misssense mutations (c.382G>A, a novel mutation, c.2146G>C, and c.715G>A) and one splice site novel mutation (c.1877+2G>A). All of Parents were heterozygous for these mutations. Consideration of affected gene regions for five CVS samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. Interestingly, one of the twin fetuses was affected and another was normal. Briefly, two cases of CVS samples were affected and three cases of remained CVS samples were unaffected.This is the first report of prenatal diagnosis of LAD-1 from Iran with two new mutations that can be used for genetic and prenatal diagnosis for all patients suspected to LAD1 and can be helpful to prevent the birth of affected children with LAD-1. This abstract presented in the second international congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.
Allergic rhinitis (AR) is an inflammatory disorder of the nasal mucosa with high morbidity and prevalence. Natural killer (NK) cells might have a role in AR. We aimed to evaluate the changes of the ...markers and receptors on NK cells in AR patients compared to the non-atopic controls.Flow cytometric analysis was used with double staining of the Peripheral Blood Mononuclear Cells (PBMCs) to examine the expression of CD25 and CD69 markers, and NKG2D and NKG2A receptors on NK cells of 20 patients with AR and 20 non-atopic controls. The serum total IgE level was measured by Enzyme-linked Immunosorbent Assay.The expression of CD69 antigen on NK cells in AR patients was significantly higher than that of healthy group (p=0.03). No significant changes were observed between CD25, NKG2D and NKG2A expression on the surface of NK cells from healthy and AR subjects. Our study also showed that there was no significant correlation between the expression of CD69, CD25, NKG2D and NKG2A and level of serum total IgE in AR patients and normal subjects.These results indicated that the expression of CD69 antigen on NK cells of AR patients was increased. The high expression of CD69 on NK cells in AR patients suggested that these cells were activated, probably due to the cytokines secreted from allergen-stimulated T cells and activated monocytes.
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.
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.
Problem
Primary Immunodeficiency Disorders (PiD) are a heterogeneous group of genetic disorders, with different modes of inheritance. This study was accomplished in order to determine the frequency ...of consanguineous marriages in the families of patients with PiD.
Method
In this study, the records 515 Iranian PiD patients were reviewed during a 25‐year period.
Results
The mean proportion of consanguineous marriages was 65.6% among PiD patients, while the overall rate was 38.6% in the country. The rate of consanguinity was 77.8% in cellular immunodeficiencies, 75.8% in combined immunodeficiencies, 72.5% in defects of phagocytic function, 58.6% in other immunodefiiencies, 54.1% in predominantly antibody deficiencies, and 50% in complement deficiencies. Moreover all patients with immunodeficiency associated with other diseases had consanguineous parents. Such marriages were most common in the parents of patients with Chediak‐Higashi syndrome, severe combined immunodeficiencies, primary CD4 deficiency, ataxia‐telangiectasia, seletive IgG class deficiencies, chronic granulomatous disease, and Schwachman syndrome.
Conclusions
It is important to inform the general population about the dangers of consanguinity, which is very common in some areas such as Iran. Premarital examination to avoid genetic diseases could be suggested, especially in a community where the rate of consanguineous marriage is high.
Asthma is one of the most common problems of childhood, responsible for a significant proportion of abstinence from school because of chronic illness. This study was carried out among the school-aged ...children (7-18 years) in Tehran schools during 2002-2003, in order to determine the frequency of asthma. According to the recommendation of WHO (World Health Organization), we designed a questionnaire, containing 8 standard questions, and the students were given necessary information to complete the questionnaires. The pre-high and high schools students completed the questionnaires but the parents of primary school students completed them on their behalf. The prevalence of asthma was 35.4% in Tehran; this prevalence was higher in the boys (37.1%), as compared to the girls (33.5%). The prevalence of this disease has been estimated about 39.5% in pre-high schools, 35.4% in high schools and 31.6% in primary students. Based on this survey, the most common clinical manifestations of asthma were: prolonged cough lasting more than 10 days (22.4%), and exercise induced wheezing or dyspnea (16.9%), followed by repeated dyspnea or wheezing (6.4%). The prevalence of asthma is high among the students of Tehran schools and it needs more careful screening programs along with additional information to the patients and parents about the disease.
Long-term intravenous immunoglobulin (IVIG) infusion is an effective treatment for children with humoral immunodeficiencies, already be complicated by systemic adverse effects. In order to determine ...the adverse effects of intravenous immunoglobulin in patients with antibody deficiency, 45 immunodeficient patients receiving intravenous immunoglobulin were studied during a 36 month period at Children's Medical Center. The investigated group included 25 patients with common variable immunodeficiency, 14 patients with X-linked agammaglobulinemia and 6 patients with IgG subclass deficiency. A total of fifty adverse effects occurred through 955 infusions (5.2%). The most frequent immediate adverse effects were mild (40 infusions out of 955) in 22 cases, including: chills, flushing, fever, nausea and headache. Three patients experienced moderate effects (10 infusions out of 955) such as rash, severe headache, joint pain and chest tightness. None of the effects was anaphylactic type. It can be concluded that intravenous immunoglobulin is generally a well-tolerated medical agent for patients with antibody deficiency, but all patients should be monitored by a physician who is familiar with its indications, risks, adverse effects and their appropriate management.
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