A decrease in T cell count or reduced T cell function can be indicative of T cell immunodeficiency. In the present study, T-cell function was assessed using Carboxyfluorescein diacetate succinimidyl ester (CFSE) dilution test after stimulation with commonly used Phytohaemagglutinin (PHA) or anti-CD3/anti-CD28 coated beads in pediatric patients with recurrent infections. Seven infants with recurrent infections and seven sex/age-matched healthy infants were included in this study. A blood cell count, immunophenotyping, and serum immunoglobulin level were performed. The proliferation of T cells was also assessed with CFSE dilution after stimulation with PHA or anti-CD3/anti-CD28 coated beads. This study showed increased IgA, IgG, and IgM levels in patients compared to the controls. In contrast to the controls, the immunophenotyping results showed a significant decline in the number of CD4+ T cells in patients. Although there was no difference in CD3+ T cell proliferation between patients and controls, the CD4+ and CD8+ T cell proliferation rates were significantly decreased in patients when stimulated with PHA. As a mitogen with the potential for maximum proliferation of T cells, PHA is better able to distinguish between patients with recurrent infections and controls than anti-CD3/anti-CD28, which mimics only the TCR pathway for stimulation of T cells.

Primary immunodeficiency (PID) is a group of more than 400 distinct genetic disorders affecting both children and adults. As signs and symptoms of PID are usually heterogeneous and unspecific, based on the available human resources and laboratory facilities, diagnosis and follow-up of these patients can be challenging. In line with this notion, management and treatment of PID are practiced divergently in different PID centers. In order to reach a distinct national protocol and given the little evidence on appropriate or universal guidelines to improve the current status of management of the disease, the Iranian PID network designed a consensus suitable for regional resources. This review summarizes this PID guideline based on the importance of different clinical complications and the level of medical authority visiting those at the first line. Further, for each complication, appropriate interventions are mentioned to improve the approach.

Allergic bronchopulmonary aspergillosis (ABPA) is the most common immunologic reaction following fungal allergen exposure in asthmatic patients. A less frequent syndrome in response to other fungal species like candida is allergic bronchopulmonary mycosis (ABPM). This reaction is mostly associated with asthma exacerbation, changes in Immunoglobulin E levels, and nonspecific findings in high resolution computed tomography (HRCT). This study presents a 9-year-old girl, a known case of childhood asthma, resolved 4 years ago as a novel case of ABPM due to Candida albicans manifested by severe emphysema, bronchiectasis, and pneumothorax which consequently required long-term treatment to get relieved.

INTRODUCTION AND OBJECTIVES:Long-term follow up of patients with hyper IgE syndrome (HIES), as a primary immunodeficiency disorder, has been poorly investigated. This study describes common clinical and immunological features of patients with HIES in the last 10 years in Shiraz University of Medical Sciences, Shiraz, Iran. METHODS AND PATIENTS:In this cross-sectional study, the symptoms and medical records of 18 patients, who were diagnosed with HIES, were observed. Genetic and immunologic study was also performed. RESULTS:Eighteen patients with the mean age of 13 years old were investigated. Ten patients were detected to have mutations in DOCK8 gene and autosomal recessive HIES (AR-HIES); and four patients were found with STAT3 mutation and autosomal dominant HIES (AD-HIES). So, 14 patients with known genetic results were considered for further data analysis. Food allergy, eczema, viral and skin infections were the major complications of AR-HIES patients. The major clinical complications of AD-HIES patients were pneumonia, skin infections and eczema. Food allergy and viral infection were significantly higher in DOCK8 deficient patients. The most common causes of hospitalization in both AR-HIES and AD-HIES patients were pneumonia, skin infections and sepsis. The most common cause of death was found to be sepsis. CONCLUSIONS:AD-HIES and AR-HIES cannot be differentiated only based on the clinical presentations. Genetic features are also necessary for better diagnosis. This study, summarizing the clinical, immunological and genetic information of the patients with AD-HIES and AR-HIES, may open a way for better diagnosis and management of HIES.

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.

Background: It has long been reported that gonadotropin releasing hormone (GnRH) analogs can improve final height of patients with idiopathic precocious puberty (IPP). This study aimed at comparing 2 different doses of GnRH agonist, triptorelin, on the adult height of girls with IPP. Methods: From July 2013, sixteen girls with IPP were randomly divided to 2 groups. The first Group received 1 intramuscular injection of triptorelin 0.3 mg/kg of body weight on a monthly basis, and the second group received this at months 1 to 6, 10 to 15, and 19 to 24. They did not receive triptorelin at months 7 to 9 and 16 to 18. Results: Patients in Group 1 received a total of 7.2 mg/kg of triptorelin during a 2-year follow up while the Group 2 received 5.4 mg/kg triptorelin or about 39.6 mg less than the other group during the same period of follow up. No side effects were noted in Group 2 receiving lower dose of triptorelin, yet, 2 cases with gray hair and 1 case with mild rash were reported in the group receiving the higher dose. No statistically significant difference was found between the 2 groups regarding height after 2 years. Conclusions: Treatment of IPP can be performed with triptorelin doses of less than 0.3 mg/kg per month, with the same height increment and lower side effects.

Background: The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD).Methods and results: A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8+ T lymphocytes, and CD19 + B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. Sequencing analysis of the exons from activation-induced cytidine deaminase (AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine.Conclusions: To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. The mutation analysis could improve diagnosis of HIGM patients and also elaborating on the spectrum of AICDA mutations. (C) 2016 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.

Kawasaki disease (KD) is a vasculitis that mostly affects children under 5 years of age. This article presents a 2.5-year-old boy who presented with 6 days of fever, generalized maculopapular rash, bilateral non-exudative conjunctivitis, cracked lips, right cervical lymphadenopathy, erythematous extremities, and perianal desquamation. Laboratory studies showed leukocytosis and sterile pyuria. Because diagnosis of KD was proved, oral acetylsalicylic acid with the anti-inflammatory dose and intravenous immunoglobulin were started for him. On the seventh day of admission time, he developed desquamation and erythema on the site of his right cervical lymphadenopathy as well as periungual scaling. About three weeks after starting the treatment, scaling of the cervical lymphadenopathy and periungual area stopped. Echocardiography was performed for him three times: at the time of diagnosis, four weeks, and 6 months later and revealed normal coronary arteries. We report this sign, desquamation on the site of cervical lymphadenopathy, as a new finding.

Background: Child-parent agreement is a controversial aspect of measuring health-related quality of life (HRQoL) in children and adolescents. The aim of this study was to assess the agreement between the child self-reports and parent proxy reports of the PedsQL 3.0 Asthma Module in Iranian children with asthma to evaluate HRQoL. Moreover, the psychometric properties of the child and parent reports of the PedsQL 3.0 Asthma Module were assessed in the present study. Methods: Participants were 112 children with asthma and their parents, who completed the Farsi version of the PedsQL 3.0 Asthma Module. The multitrait-multimethod correlation matrix and factor analysis were used to test whether the child self-reports and the parent proxy reports measured the same construct. Additionally, convergent and discriminant validity and internal consistency were assessed using the Pearson correlation. Results: The correlation between the child and parent HRQoL perceptions ranged between 0.13 and 0.36 across the same domains. Our factor analysis revealed that the child self-reports and the parent proxy reports measured 2 different constructs of HRQoL. Furthermore, our findings showed that both the child self-reports and the parent proxy reports of the PedsQL 3.0 Asthma Module had excellent internal consistency and acceptable convergent and discriminant validity. Conclusion: Although the child self-reports and the parent proxy reports of the Farsi version of PedsQL 3.0 Asthma Module showed good psychometric properties, they were not interchangeable. Our children with asthma and their parents evaluated child HRQoL from their own viewpoints.

Introduction: Exposure to cockroaches was reported to be a cause of asthma in many parts of the world. The aim of the study was to determine the prevalence of cockroach sensitivity in asthmatic children under 5 years of age in Iranian children with asthma. Material and Method: Ninety two (33 female/59 male) patients were asked to complete a questionnaire covering demographic characteristics, and were subjected to skin prick testing for cockroach allergen. Blood samples were also withdrawn for assessment of total serum IgE and eosinophilia. Results: Twenty seven percent (n=25) of subjects had positive skin test results for cockroach allergen. There were no significant correlations between the prevalence of cockroach skin test positivity in male and female children, rural and urban areas or infants under 2 years and older. The age of the youngest subject with a positive skin test for cockroach was 2 months. Moreover, the parent’s level of education and the type and age of children’s residence had no effect on the prevalence of cockroach skin test positivity. There was also no significant correlation between the total serum IgE and eosinophilia and the prevalence of cockroach skin test positivity. Conclusion: Cockroach is an important source of domestic infestations in the city of Shiraz. Sensitization to cockroach allergens may develop early in life. Skin test for cockroach allergen in asthmatic children may provide information for programming environmental control strategies. (Tur Toraks Der 2009;10:26-30)

Primary ciliary dyskinesia (PCD) is a recessively inherited disease that leads to chronic respiratory disorders owing to impaired mucociliary clearance. Conventional transmission electron microscopy (TEM) is a diagnostic standard to identify ultrastructural defects in respiratory cilia but is not useful in approximately 30% of PCD cases, which have normal ciliary ultrastructure. DNAH11 mutations are a common cause of PCD with normal ciliary ultrastructure and hyperkinetic ciliary beating, but its pathophysiology remains poorly understood. We therefore characterized DNAH11 in human respiratory cilia by immunofluorescence microscopy (IFM) in the context of PCD. We used whole-exome and targeted next-generation sequence analysis as well as Sanger sequencing to identify and confirm eight novel loss-of-function DNAH11 mutations. We designed and validated a monoclonal antibody specific to DNAH11 and performed high-resolution IFM of both control and PCD-affected human respiratory cells, as well as samples from green fluorescent protein (GFP)-lef-tright dynein mice, to determine the ciliary localization of DNAH11. IFM analysis demonstrated native DNAH11 localization in only the proximal region of wild-type human respiratory cilia and loss of DNAH11 in individuals with PCD with certain loss-of-function DNAH11 mutations. GFP-left-right dynein mice confirmed proximal DNAH11 localization in tracheal cilia. DNAH11 retained proximal localization in respiratory cilia of individuals with PCD with distinct ultrastructural defects, such as the absence of outer dynein arms (ODAs). TEM tomography detected a partial reduction of ODAs in DNAH11-deficient cilia. DNAH11 mutations result in a subtle ODA defect in only the proximal region of respiratory cilia, which is detectable by IFM and TEM tomography.

The most important multilateral variable of development, at present time, in the organizations and businesses fields is knowledge. This study aimed to investigate the relationship between knowledge management and the application of information technology at departments and youth sports association in West Azerbaijan province. The population were all employees of the Youth and Sports Department and the sample was determined with a statistical population (140=N). The data were collected through a standard questionnaire of Knowledge Management and a valid IT questionnaire. The reliability of the Knowledge Management questionnaire and the IT questionnaire were 90.0 and 97.0, respectively. The data were analyzed by Pearson correlation, multiple regression and analysis of variance. The results showed a significant positive relationship between knowledge management and application of information technology. Regression results also showed that the sub-scale of knowledge acquisition can be as the best predictor for usage of information technology in sports and youth staff department’s province. Therefore, IT as an efficient infrastructure for knowledge management and information technology can play a key role to serve as an effective tool in the acquisition, distribution and accountability to develop knowledge among the Youth and Sports Department.

Kawasaki disease (KD) is an acute febrile systemic vasculitis of childhood characterized by elevated levels of inflammatory mediators at the acute stage. High-dose intravenous immunoglobulin (IVIG) is well accepted as a conventional therapy for KD. The aim of the present study was to determine the expression level of Toll like receptors (TLRs) and their corresponding signaling mediators in PBMCs of IVIG-treated KD patients. TLR2, 3, 9 and signaling mediators, MyD88 and TRIF transcript levels were determined in PBMCs from 31 KD patients, before (acute phase), 2 weeks later (sub-acute phase) and 6 weeks later (convalescent phase) of IVIG therapy using real time PCR. The mean age of the patients was 3.6 years and 65% of subjects were male and 35% were female. 20 age-matched irrelevant febrile patients and 20 healthy subjects were included as control groups. Elevated levels of TLR2, MyD88, and TRIF gene transcripts were observed in the PBMCs at acute phase of untreated KD patients in compression with normal subjects. IVIG therapy resulted in significant decrease in TLR2, 3 and 9 (60-90%) as well as MyD88 and TRIF (60-70%) transcripts following 2 and 6 weeks. With Regard to significant up-regulation of MyD88 and TRIF at the acute phase of KD, our findings suggest TLR signaling pathway potential in KD pathogenesis and may also support the assumption of an infectious background in KD. Down-regulation of TLR members and corresponding mediators in IVIG treated patient suggest general TLR pathway suppression as a novel anti-inflammatory mechanism of IVIG.

Objectives: This study aims to describe clinical manifestations of systemic lupus erythematosus (SLE) and laboratory assessment in children in the Southwestern Iran.Patients and methods: This descriptive study included 32 patients (23 females, 9 males; mean age 10.5 years; range 3 to 16 years) with SLE who were referred to Rheumatology Outpatient clinic at Shiraz University of Medical Sciences between July 2011 and July 2012. A complete history of each patient was taken and the medical records were reviewed for clinical symptoms and laboratory test results.Results: Twenty-three patients were newly diagnosed with SLE during the study. The most commonly involved organs were skin in 30, joints in 21, kidney in 18 and central nervous system in 10 patients. Laboratory findings at the time of diagnosis showed anemia in 19, leukopenia in 15 and thrombocytopenia in three patients. Increased erythrocyte sedimentation rate and C-reactive protein values were detected in 27 patients and 16 patients, respectively. There was high level of double-stranded DNA in 30 and anti-nuclear antibodies in 27 patients. A total of four patients died within the study period, one from pulmonary hemorrhage, two from end-stage renal disease and the other one due to subdural hematoma and renal failure.Conclusion: Our study results demonstrated that the clinical manifestations of SLE in childhood were mostly consistent with the previous reports of Iran and nearby Arabian countries. Kidney involvement was lower in our study; however with a higher number of patients with antinuclear antibody negative.

Background: Asthma is a common illness, especially among children. Exercise-induced asthma is an important consideration, both as a factor, limiting physical activity of patients, and also as an indicator of poor long term control. We investigated pre-Valence of exercise-induced asthma in a group of asthmatic children living in southern Iran. Methods: We conducted treadmill exercise challenge test in 40 young asthmatic patients aged 6 to 18. After 8 minutes exercise to achieve 80% of maximum heart rate predicted for age, patients were examined and spirometry values recorded at frequent intervals. We defined exercise-induced asthma as 10% or more decline in Forced Expiratory Volume in one second (FEV1) within 30 minutes after exercise challenge. Results: Of 40 patients evaluated, 22 patients (55% of total) met our criteria for exercise-induced asthma. Most positive responses (7 of 22, 31.8%) occurred at about 10 minutes after exercise. Cough was the most consistent sign (18 of 22 patients, 81%). In 2 patients (9%), FEV 1 decline did not accompany any symptom or sign. Conclusion: We concluded that Exercise- induced asthma occurs in a relatively smaller subset of southern Iranian asthmatic children. Also treadmill exercise challenge performed by a trained staff, following standard protocol and using enough monitoring and precautions is safe and diagnostic in children and adolescents.

Inflammation of blood vessels is a characteristic feature of Kawasaki disease. Neutrophils play a key role in the inflammatory responses where movement of neutrophils toward the site of inflammation depends on CD11b/CD18 expression as adhesion molecules on these cells. The purpose of this study was to investigate CD11b/CD18 expression in patients with Kawasaki disease upon diagnosis and after treatment.The study included 20 children with Kawasaki disease aged from 3 months to 8 years. Mean fluorescence intensity of CD11b levels on diagnosis and at 1-2 and 6 weeks after intravenous immunoglobulin (IVIG) therapy was measured in these patients. Level of CD11b was measured in age-matched healthy children and febrile children (each 21) as negative and positive controls, respectively.Mean fluorescence intensity of CD11b in Kawasaki patients was lower than that of the control groups before and after 1-2 weeks of IVIG therapy. There were no significant differences in CD11b in Kawasaki patients either with aneurysm or without aneurysm.The CD11b levels at the diagnosis time and after treatment with IVIG in our patients with Kawasaki were lower than the control groups.