Search

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n = 4), CD40L (n = 1), ICOS (n = 1), IGHM (n = 1), and TCF3 (n = 1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2-10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs. Istanbul University ; Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) ; Istanbul Bilgi University

The original published version of this article contained a mistake in one of the affiliations. The correct affiliation of author Manolya Kara (7) should read: Istinye University Faculty of Medicine, VM MedicalPark Pendik Hospital, Pediatric Infectious Diseases Clinic, Istanbul, Turkey The original article has been corrected. © 2021, Springer Science+Business Media, LLC, part of Springer Nature. 10.1007/s12026-021-09248-7 WOS:000708817100001 34668146 Q3

Objectives To determine the allergic reactions that develop after Measles and Measles-Mumps-Rubella (MMR) vaccination, and whether any delay in the timing of vaccination occurs in children with food allergy. Methods Children with food allergy who were admitted to the Sisli Hamidiye Etfal Training and Research Hospital Healthy Child Clinic between 1st January 2015 and 30th June 2018 for Measles or MMR vaccination were studied retrospectively. Their age, delayed days of vaccination, the types of allergic food, the results of the specific IgE and skin tests, and any reaction after the vaccination were recorded. Results During the study period, 159 patients were vaccinated and 170 doses of Measles or MMR vaccine were administered. Children allergic to egg were 50.3%, allergic to egg and milk were 25.8%, and 13.2% had multiple food allergy including egg. The rate of post-vaccination reactions in the patients with food allergy was 1.76%. Minor reaction was observed in three patients and no anaphylaxis was seen in any patient. Delayed days of vaccination in the patients referred by another center were greater than followed-up by present clinic (p < 0.001). Conclusions Any serious allergic reaction was not observed in this study. Food allergy does not necessitate modification of routine vaccination. Anaphylaxis may develop in any vaccinated child regardless of whether he/she has food allergy or not. Therefore, vaccines should be administered in a healthcare facility that can treat anaphylaxis. WOS:000487126700012 31104294 Q3

Objectives The dietary protein proctocolitis, also known as allergic proctocolitis (AP), is characterized by the presence of mucoid, frothy, and bloody stools in an otherwise healthy infant. The aim of this study was to describe a group of children with AP, diagnosed according to the criterion-standard method, food challenge to provide clinicians with more information on typical presentation, and an overview on nutritional management strategies and prognosis. Methods We collected data on infants with AP in our allergy and gastroenterology outpatient clinics. Any other conditions that may cause bloody diarrhea were ruled out. Skin prick tests and atopy patch tests were performed for diagnosis, and patients were studied for resolution. To the patients whose rectal bleeding did not recover with oligoantigenic maternal diet in addition to amino acid-based formula, endoscopic evaluation was performed to confirm the diagnosis and to exclude other reasons of rectal bleeding. Results Sixty patients were diagnosed as having AP. The age of onset was 1.7 ± 1.32 months. All of the patients were triggered by milk, 6.6% with milk and egg, 3.3% with milk and chicken, 1.7% with milk and wheat, 1.7% with milk and potato, and 3.3% had multiple food allergy. 53.3% (n = 32) acquired tolerance by age 1, 25.0% (n = 15) by 2 years, 5% (n = 3) by 3, and 1.7% (n = 1) by 4 years. Conclusions Milk was a triggering factor for all of the patients. Resolution of AP is usually within 1 year but symptoms of some patients may continue even longer. An extension of the follow-up period is required according to our study.

Background/aim: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a crosssectional study. Materials and methods: Premature infants at

Background Beta-lactam antibiotics are the most frequent drugs prescribed in children worldwide. Acute rheumatic fever (ARF) is the major cause of acquired heart disease among children and adolescents. Recurrences due to inadequate penicillin prophylaxis are responsible for chronic valvular lesions requiring surgery. The fear of a severe allergic reaction is the leading cause of discontinuing prophylaxis. Objective In this study, we aimed to reveal the frequency of adverse events and real allergic reactions to benzathine penicillin among children who are followed in our paediatric cardiology clinic with a diagnosis of ARF. Materials methods The children who were followed with a diagnosis of ARF between January 2005 and December 2011 were searched for a history of penicillin allergy. Patients with a positive history were evaluated in our paediatric allergy clinic. Skin tests and provocation tests were performed with parental consent. Results In total 535 children with a diagnosis of ARF were analysed for the study. Median follow up period was 24 months (12–36) [median (%25–75)]. Eleven of our 535 (11/17.641 injection) ARF patients were suspected to have allergic reactions after 17.641 penicillin injections but only one (0.18%) was diagnosed to have penicillin allergy after detailed evaluation. Conclusion Our data suggest that the frequency of penicillin allergy is much lower than suspected among children on penicillin prophylaxis for ARF. Consequently, penicillin prophylaxis should not be given up without proper evaluation of drug allergy.

In this study, our goal is to evaluate the consistency between TRACK and the asthma control levels assessed according to the GINA and NAEPP guidelines in children younger than 5 years of age.Patients under 5 years old, who were followed up for recurrent wheezing for at least 1 year have been included. Parents were given the TRACK questionnaire and the control level of asthma according to GINA and NAEPP guidelines were determined by a pediatric allergist blinded to TRACK scores. Patients were classified into two groups regarding the compatibility of the control level between TRACK and both GINA and NAEPP guidelines.A total of 365 questionnaires were evaluated. The TRACK cut-off point of 80 provided the most consistent balance between sensitivity and specificity for the compatibility with both GINA and NAEPP (for GINA 0.763 and 0.663, kappa = 0.487, p 0.001 and for NAEPP 0.761 and 0.769, kappa = 0.524, p 0.001, respectively). When 80 was taken as the cut-off value for TRACK, the compatibility rate of asthma control levels between TRACK and GINA and TRACK and NAEPP was 71.0 and 76.4%, respectively. About 70.1% of the patients who had TRACK scores over 80 and had mild asthma were grouped as controlled according to GINA and 50.0% of patients who had TRACK scores over 80 and had moderate to severe asthma was grouped as uncontrolled according to GINA (p = 0.019).TRACK is compatible with NAEPP and GINA in majority of asthmatic children under 5 years of age. Nevertheless, there is a discrepancy between guidelines and TRACK scores; therefore, it should be used in conjunction with a detailed clinical examination in order to make a better decision for assessing the control levels and management plan.

Honey allergy is a very rare, but serious health condition. In this study, we presented six patients who described systemic allergic reactions after ingestion of honey. Three of the six patients had suffered from anaphylaxis. Honey-specific IgE was measured and skin-prick tests for honey were performed to diagnose honey allergy. The results of honey-specific IgE of all patients were positive. Four patients had high serum-specific IgE for honey bee venom and two of five patients had also experienced anaphylaxis due to bee stings. Skin-prick tests with honey and pollens were positive in five patients. Honey is one of the foods that can cause severe systemic reactions. Specific IgE and skin-prick tests are helpful for the diagnosis of honey allergy. Language: en

Background Food allergy, which becomes an important public health problem, can lead to important morbidity and mortality. Patients with food allergies are more likely to first present to their primary care physicians. We aimed to determine the knowledge of primary care physicians with regard to management of food allergies and anaphylaxis. Methods Primary care physicians were surveyed via a questionnaire aimed to document their knowledge and attitudes about food allergy and anaphylaxis management. Results A total of 297 participants completed questionnaires, 55.6% of which were female. Participating physicians had a mean of 17.0 ± 6.1 years of experience. Participants answered 47.2% of knowledge-based items correctly. Overall, participants fared poorly with regard to their knowledge on the treatment of food allergies and anaphylaxis. For example while 60.7% knew that a child can die from the milk allergy reaction, only 37.5% were aware that a child with IgE mediated milk allergies cannot eat yoghourts/cheese with milk. Besides, 53.1% of them chose epinephrine as their first treatment of choice in case of anaphylaxis, yet only 16.6% gave the correct answer about its dosage. Nearly a third of participants (36.7%) felt they were knowledgeable enough regarding the management of patients with food allergies, while 98.2% extended their request for future periodic educational meetings on allergic disorders. Conclusion Knowledge of food allergy and anaphylaxis among primary care physicians was unsatisfactory. Provision or periodic educational programmes should be aimed at improving the standard of practice as acknowledged by the participants.

Background Although food allergy is an important health problem in Western countries, the prevalence varies among geographic regions. There is limited data on the prevalence of food allergy especially for adolescent age group, and the data from Turkey and Mediterranean region are even scarce. Methods The study is a cross-sectional survey including a questionnaire followed by phone survey with families that have reported food allergy and clinical evaluation of children having a history compatible with food allergy after phone survey. The sample number of students has been calculated 9096 of a total of 210.000 students at the second stage (6th, 7th, and 8th grades) of state elementary schools in the metropolitan counties of Ankara province with the assumption of food allergy prevalence (P) = 1% and a δ value = 0.2 (α

Background Emerging evidence suggests that sex steroid hormones may influence respiratory symptoms. The existing literature about the role of oral contraceptive pill (OCP) on respiratory disease is scarce and conflicting especially during the adolescent period. In this study, we aimed to investigate the effect of OCPs on current wheezing among adolescents and young adults. Methods A questionnaire was administered face-to-face to adolescents and young women by a physician. The questionnaire included ISAAC survey-comprised questions on ever wheezing, current wheezing, allergic diseases, smoking history (active or passive), and family history of allergic diseases and questions on OCP usage status. The effect of OCPs on wheezing was evaluated by logistic regression analysis. Results A total of 487 subjects aged between 11.3 and 25.6 years participated in the study and 196 (40.2%) reported that they had used OCPs. 7.4% of the participants had physician-diagnosed asthma and 10.3% of them were active smokers. It was detected that OCPs were associated with increased risk for current wheezing (odds ratio, 2.36; 95% CI, 1.25–4.47 adjusted for asthma and current smoker) and this risk was related with the usage during the past year. Conclusion Young women taking oral contraceptives had a higher rate of current wheezing, suggesting that sex steroids may be of importance for respiratory health.

Despite the increasing frequency of anaphylaxis, there is inadequate information on the etiology and clinical features in various countries, regions and age groups, especially in developing countries.Our aim is to assess the etiology and clinical findings of anaphylaxis in Turkey. Gathering reliable data about the etiology and clinical findings of anaphylaxis in the general population will decrease the related morbidity and mortality.We obtained the names and phone numbers of individuals who had been prescribed an epinephrine auto-injector with a diagnosis of anaphylaxis from ministry of health. Demographic data, clinical history of the first episode of anaphylaxis including the triggering agent, clinical findings, course of hospitalization, and the management of anaphylaxis were obtained by phone survey.A total of 843 patients with a mean age of 21.4±17.3 years were evaluated. There was a significant male predominance among children younger than 10 years of age but a female predominance in older subjects. The most common causes of anaphylaxis were foods(40.1%) in children and bee venom(60.8%) in adults. The biphasic reaction rate was 4.3% and the median length of stay at an emergency department was 4.0 hours. Almost 60% of the patients had recurrent anaphylaxis episodes. Only 10.7% of the cases were prescribed an epinephrine auto-injector at their first anaphylaxis episode and only 59.2% of the patients were referred to an allergist during discharge from the emergency department.In Turkey, bee venom was the most common cause of anaphylaxis, followed by food and drug. While more than a half of patients reported recurrent attacks; only 10% had been prescribed epinephrine auto-injector kit after their first episode. Strategies to improve the anaphyalxis management are therefore urgently required.

WOS: 000399829700033 PubMed ID: 28425252 Background/aim: IgA deficiency is the most common human primary immunodeficiency. The prevalence of allergic disorders and autoimmunity is thought to be increased in selective IgA deficiency (sIgAD). However, it is currently unclear if these disorders coincide within these families. We aimed to evaluate the frequency of allergic and autoimmune disorders in children with sIgAD and their first-degree relatives (FDRs). Materials and methods: The study included 81 children diagnosed with sIgAD and 274 of their FDRs. The presence of allergic and autoimmune disorders was evaluated and serum antithyroglobulin and antithyroid peroxidase levels were measured in both patients and their first-degree relatives. Results: The mean age of the patients was 9.9 +/- 3.9 years. Among the patients with sIgAD, 45.7% of them had at least one allergic disorder and 17.3% of them had at least one autoimmune disorder. The frequencies of asthma, allergic rhinitis, and eczema in the FDRs of sIgAD patients were 10.9%, 9.1%, and 7.7%, respectively. Among their FDRs, 14.6% had autoimmunity, compared to an estimate of 5% in the general population. Conclusion: Increased frequency of allergic and autoimmune disorders in patients with sIgAD and their FDRs suggests a possible common predisposing genetic component for sIgAD and autoimmunity in these families.

Background/aim: Data about contact allergen sensitization (CAS) in children with atopic dermatitis (AD) are limited. The purpose of this study was to identify the frequency and patterns of CAS in children with AD by using a ready-to-use patch test system. Materials and methods: After receiving the history of CAS in the patients, the severity of AD and IgE-mediated allergen sensitization were determined. Results: Of 134 children with AD, 33.8% (n = 45) had at least 1 positive reaction. The most frequent positive reaction was to nickel sulfate (NS) (37.8%, 17/45), followed by methylchloroisothiazolinone (20.0%, 9/45) and thimerosal (15.6%, 7/45). The total Scoring Atopic Dermatitis (SCORAD) score was significantly higher in the NS-sensitized group (P = 0.036). The patients with NS sensitization had moderate-severe AD more frequently than those without any reaction (P = 0.020). When the SCORAD score was evaluated in detail, extent of eczema, score of sleep loss, and pruritus were significantly higher in the patients with NS sensitization than those without any reaction (P = 0.002, P = 0.001, and P = 0.002, respectively). Conclusion: Our study confirms the necessity of CAS in the management of AD. In particular, NS sensitization should be considered for children with severe AD or larger extent of eczema and trunk involvement.

Background Despite the increasing frequency of anaphylaxis, there is inadequate information on the etiology and clinical features in various countries, regions and age groups, especially in developing countries. Objective Our aim is to assess the etiology and clinical findings of anaphylaxis in Turkey. Gathering reliable data about the etiology and clinical findings of anaphylaxis in the general population will decrease the related morbidity and mortality. Method We obtained the names and phone numbers of individuals who had been prescribed an epinephrine auto-injector with a diagnosis of anaphylaxis from ministry of health. Demographic data, clinical history of the first episode of anaphylaxis including the triggering agent, clinical findings, course of hospitalization, and the management of anaphylaxis were obtained by phone survey. Results A total of 843 patients with a mean age of 21.4±17.3 years were evaluated. There was a significant male predominance among children younger than 10 years of age but a female predominance in older subjects. The most common causes of anaphylaxis were foods(40.1%) in children and bee venom(60.8%) in adults. The biphasic reaction rate was 4.3% and the median length of stay at an emergency department was 4.0 hours. Almost 60% of the patients had recurrent anaphylaxis episodes. Only 10.7% of the cases were prescribed an epinephrine auto-injector at their first anaphylaxis episode and only 59.2% of the patients were referred to an allergist during discharge from the emergency department. Conclusions In Turkey, bee venom was the most common cause of anaphylaxis, followed by food and drug. While more than a half of patients reported recurrent attacks; only 10% had been prescribed epinephrine auto-injector kit after their first episode. Strategies to improve the anaphyalxis management are therefore urgently required.

Annual Congress of the European-Academy-of-Allergology-and-Clinical-Immunology -- JUN 11-15, 2016 -- Vienna, AUSTRIA Kaya, Aysenur/0000-0002-8183-0190; WOS: 000387572300012 PubMed: 27931300 Background: Chronic urticaria (CU) is a skin disorder defined as daily or almost daily exhibition of pruritic and transient wheals that last for >6 weeks. CU is divided into two subtypes: chronic spontaneous urticaria (CSU) and chronic inducible urticaria (CIndU). Objectives: To evaluate the clinical features, possible causes, associated findings, and laboratory results of different subtypes of CU in children according to a new classification. Methods: In this study, we evaluated the clinical features, laboratory investigations, and provocation tests of children with different subtypes of CU according to a new classification. Results: Two hundred and twenty-two children (59.9% girls) were enrolled in the study. Of the study patients, 59.9% and 40.1% were diagnosed as having CSU and CIndU, respectively. Antithyroid antibody levels were positive in 7.1% of the patients with CSU, 32.8% of the children had positive 14C-urea breath test results, and 6.5% of the patients had positive stool examination results for parasites. Autologous serum skin test results were positive in 53.5% of the patients with CSU. Of the patients with CIndU, 77.5% had symptomatic dermographism, 16.8% had cold urticaria, 2.2% had cholinergic urticaria, 2.2% had solar urticaria, and 1.1% had aquagenic urticaria. Conclusion: Children with CSU represent the majority of patients with CU, and more than a half of these patients might have autoimmune urticaria. Symptomatic dermographism was the most common type of CIndU. European Acad Allergol & Clin Immunol

Background: Contact dermatitis (CD) is a significant problem among nurses. Although there are reports about the prevalence of CD from different parts of the world, data about its frequency in Turkey and about allergic contact sensitization among nurses is insufficient. Objective: To define the frequency and patterns of allergic contact sensitization and related symptoms in practicing and student nurses. Methods: There were 123 nurses in our hospital practicing in the in-patient clinics. All were invited to participate in the study. 69 working-in nurses and 79 student nurses participated in the study. The main reason for refusal of nurses was that they were usually having a shower daily after a hard working day and they had to postpone having a bath for 3 days if they had a patch test on their back. A ready-to-use patch test system (TRUE test®) with 29 standardized test substances was applied to all of the participants. History about symptoms of CD and allergic diseases was investigated by questionnaire. Results: While 34.8% (24/69) of practicing nurses had symptoms of CD, 19% (15/79) of student nurses reported the symptoms (p=0.039). The most prevalent positive reaction was to nickel sulfate followed by thimerosal. There was no difference for positive reaction rates between practicing and student nurses. Nurses who had symptoms of CD were older than those without symptoms (p=0.003). The participants with symptoms of CD were more frequently from practicing nurses (p=0.047). Conclusion: CD is more frequent in practicing nurses than student nurses; allergic contact sensitization is not. This may be attributed to the length of occupation that is also correlated well with the length of exposure to the occupational irritants.

Crimean-Congo hemorrhagic fever is a zoonotic disease that can be a severe illness in humans. We investigated concentrations of interleukin (IL)-6, tumor necrosis factor-alpha and IL-10 in serum samples obtained from 25 pediatric Crimean-Congo hemorrhagic fever cases and 35 control children with no signs of infection. Lower cytokine values in our patients could be a good prognostic factor to for a better outcome.

Background The negative predictive value of the drug provocation test is important for both the patient and the physician. However, in children, this predictive value is unresolved. Methods The study included patients who had drug provocation test with a suspected drug and was diagnosed as ‘not allergic to the drug’. Three months after allergy workup, the patients were contacted and asked for reexposure to the tested drug. Patients who have reported reactions during reexposure were reevaluated with skin tests and drug provocation. Results During the study period, 217 provocations were performed to 203 patients. Of these, 163 patients (80.3%) with 175 negative drug provocation tests could be contacted. Ninety-one (52%) of the 175 cases reported to use the tested drug again, and 11 (12%) of these cases declared that they had a new reaction. Two of the eleven cases refused reevaluation. Nine cases were evaluated by drug allergy workup. Two of the nine cases were classified as allergic after retests. Collectively, the negative predictive value was 95.6% (87 of 91 cases) for all drug challenges. Conclusions The negative predictive value of the drug provocation test is abundant in children; however, negative drug provocation tests do not necessarily predict tolerance for the drug.

The aim of this study was to evaluate the risk factors of disease severity to facilitate better management of children with severe atopic dermatitis (AD). All the patients were diagnosed using Hanifin-Rajka criteria. After medical and family histories were obtained and a detailed physical examination was performed, disease severity was determined with the objective SCORing Atopic Dermatitis (SCORAD) index. Skin prick tests were performed, and percent of peripheral blood eosinophils, total serum IgE and specific IgE were measured. The median age of the 501 patients was 15 months (interquartile range [IQR]: 6-40 months), and 62.9% (315) were male. Sensitization to at least one allergen and foods was observed in 40.3% (202) and 30.9% (155) of all patients, respectively. Of the study group, 17.6% (88) had severe disease. When logistic regression analyses were performed, with adjustments, the risk factors for severe AD were determined to be eosinophilia (odds ratio [OR] 1.137, 95% confidence interval [CI] 1.062-1.217; p=0.003) and food allergen sensitization (OR: 1.937, 95%CI: 1.217-3.084; p=0.005). The patients with severe AD had sensitization to common allergens, food allergens and eosinophilia more frequently than those with mild-moderate disease (p=0.001, p=0.001 and p=0.005, respectively). Eosinophilia may predict severe disease and allergic sensitization. Further large-scale follow-up studies are needed to improve the reliability and relevance of this relation.

Anaphylaxis is a potentially life-threatening condition. There are limited data about the etiology and the clinical characteristics in developing countries. This study aimed to investigate the clinical characteristics of anaphylaxis patients attending our pediatric allergy clinic. We conducted a prospective analysis of patients who were admitted to our allergy clinic for anaphylaxis from 2010 to 2012. Ninety-six patients were evaluated during the study period. The mean age was 7.4 ± 5.2 years. Venom, food, and drugs were the most common causative agents responsible for 31 (32.3%), 30 (31.3%), and 26 (27.1%) of the cases, respectively. Foods implicated most frequently were peanuts and nuts (n = 9; 30.0%), cow's milk (n = 7; 23.3%), and egg white (n = 6; 20.0%). The clinical manifestations during anaphylaxis in order of frequency were cutaneous (97.9%), respiratory (86.5%), gastrointestinal (42.7%), neurological (37.5%), and cardiovascular symptoms (30.2%). A biphasic course was noticed in five cases (5.2%). Of the 91 patients, 79 (86.8%) received H1-antihistamines, 73 (80.2%) received corticosteroids, 40 (44.4%) received adrenaline, 38 (41.8%) received fluid replacement therapy, 18 (19.8%) received β2-mimetics, and 8 (8.8%) received H2-antihistamines. According to severity, 7.3% of patients had mild, 59.4% had moderate, and 33.3% had severe anaphylaxis. Food and bee venom allergy were the most common etiologies. Adrenaline, the first-line treatment of anaphylaxis, was administered in only 44.4% of our cases.

Background: Several studies have demonstrated a relationship between asthma and obesity. However, the results have been conflicting with regard to the relationship between fractional exhaled nitric oxide (FeNO), used as a marker of airway inflammation in asthmatic patients, and obesity. We aimed to evaluate the association of FeNO with obesity and obesity-related metabolic complications in asthmatic and nonasthmatic children. Methods: The study population included children aged between 6 and 17 years and consisted of 4 groups: obese asthmatics (n = 52), normal-weight asthmatics (n = 49), obese nonasthmatics (n = 51) and normal-weight nonasthmatics (n = 42). FeNO measurement and spirometry were performed for all patients. To evaluate the metabolic complications, serum lipids, glucose and insulin levels were measured. Insulin resistance (IR) was estimated by the homeostasis model assessment, HOMA-IR. All participants were evaluated for the presence of metabolic syndrome (MS). Results: The mean age for the 194 subjects participating in the study was 11.6 ± 2.5 years. The FeNO level of asthma patients with MS was not different from those without MS (14.5 ± 8.0 and 16.7 ± 8.7, respectively, p = 0.449). In the nonasthmatic group, subjects with MS had a higher FeNO level than subjects without MS (12.5 ± 5.1 and 17.3 ± 8.3, respectively, p = 0.014). Spearman's rank correlation coefficients revealed a positive correlation between FeNO and body mass index (BMI; p = 0.049, r2: 0.204) in the nonasthmatic group and after multivariate regression analysis, BMI still persisted as an independent risk factor for FeNO. Conclusion: We found a positive correlation between BMI and FeNO level which suggests a link between obesity and increased airway inflammation in nonasthmatic children.

Background Despite drug-related hypersensitivity reactions are an important health problem, epidemiologic data on drug allergy and hypersensitivity are limited, and studies including diagnostic work-up are scarce. The aim of this study was to determine the actual frequency of immediate type drug hypersensitivity using diagnostic tests in school children with parent-reported drug allergies. Methods This study involved three phases. The first phase is a survey of children with a mean age of 12.9 yrs attending grades 6–8 of primary schools with a questionnaire asking drug-related symptoms within 2 h of ingestion. The total population of sixth to eight grade school children was 210,000, and a sample size of 9096 was deemed to be representative of Ankara [(p) = 1.0%, α

Nondiphtherial Corynebacterium species isolated from clinical specimens are usually considered as contaminants by many clinicians when reported by microbiologists. However, an increasing number of studies have confirmed the importance of Corynebacterium spp. in the etiology of a variety of infectious processes. In this report, we present a case of bronchopneumonia caused by Corynebacterium propinquum. The infection occurred in a seven-year-old child who had a history of immunosuppression due to ataxia telangiectasia. The purulent sputum of the patient yielded a large number of polymorphonuclear leucocytes with abundant gram-positive coryneform bacilli in gram staining and pure growth of coryneform bacteria in culture. Definitive identification as C. propinquum was made by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) and 16S rRNA gene sequencing. C. propinquum should be recognized as a potential pathogen and included in the etiologic diagnostic algorithm, particularly in patients with immunosuppressive conditions.

Clinical features of mercury poisoning are nonspecific, and a detailed history is very valuable. The silvery, shiny appearance of mercury makes it very exciting and attractive for children. The overall half-life of elemental mercury in the body averages approximately 2 months. Chelation therapy with dimercaptosuccinic acid is the treatment of choice if the urine or blood level of mercury is high or the symptoms are profound. Here, we describe a 14-year-old boy with fever, respiratory distress, and body rash. Investigation leading to a diagnosis of mercury poisoning was made only after his mother presented with the similar symptoms a few days later. Language: en

Trace elements are micronutrients that are present in small amounts in the body and are essential for normal functioning of the immune and antioxidant systems. Inflammation and oxidative stress are major pathogenic mechanisms in the development of atopic dermatitis (AD). The role of micronutrients in AD has been investigated in a limited number of studies, although the results are contradictory.In this study, we examined the levels of iron, copper, and magnesium in serum and the level of zinc in erythrocytes in children with AD. We compared our findings with those of a healthy control group.The study population comprised 92 AD patients and 70 controls. We performed a complete blood count and measured levels of iron, copper, and magnesium in serum and levels of zinc in erythrocytes.We found that serum magnesium and erythrocyte zinc levels were lower in children with AD than in the control group; levels of copper and iron did not differ between the groups. The levels of micronutrients studied were not correlated with disease severity.Evaluation of zinc and magnesium levels in children with AD could prove useful. The role of micronutrients in the pathogenesis and course of AD warrants further study.

dermatitis among the patients were 19.4, 62.7 and 17.9%, respectively. The 42.5% of patients were sensitized to the allergens tested. The most frequent sensitized allergens were egg white (26.9%), cow’ sm ilk (10.4%), wheat (6.0%). Among the patients with different severity, there were no significant difference according to gender, the status of atopy, age, the beginning age of symptoms, the percent of peripheral blood eosinophil, family history of atopy, serum IgE level. Conclusions

Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment strategies. We sought to identify the genetic aetiology of various phenotypes of SCIDs and assessed both clinical and immunologic characteristics associated with gene variants. An amplicon-based targeted NGS panel, which contained 18 most common SCID-related genes, was contumely made to screen the patients (n = 38) with typical SCID, atypical SCID or OMENN syndrome. Allelic segregations were confirmed for the detected gene variants within the families. In total, 24 disease-causing variants (17 known and 7 novel) were identified in 23 patients in 9 different SCID genes: RAG1 (n = 5), RAG2 (n = 2), ADA (n = 3), DCLRE1C (n = 2), NHEJ1 (n = 2), CD3E (n = 2), IL2RG (n = 3), JAK3 (n = 4) and IL7R (n = 1). The overall success rate of our custom-made NGS panel was 60% (39.3% for NK+ SCID and 100% for NK- SCID). Incidence of autosomal-recessive inherited genes is more frequently found in our cohort than the previously reported populations probably due to the high consanguineous marriages in Turkey. In conclusion, the custom-made sequencing panel was able to identify and confirm the previously known and novel disease-causing variants with high accuracy. Istanbul Bilgi UniversityIstanbul Bilgi University [NGYY-2018.01.0006]; Bilimsel Arastirma Projeleri Birimi, Istanbul Universitesi [52575, 20499] Istanbul Bilgi University, Grant/Award Number: NGYY-2018.01.0006; Bilimsel Arastirma Projeleri Birimi, Istanbul Universitesi, Grant/Award Number: 52575 and 20499 WOS:000534741000001 32445296 Q4

Introduction: The lymphoid enhancer factor 1 (LEF1) is a DNA-binding transcription factor that functions in the Wnt signaling pathway. Increased LEF1 activity is associated with progression of several types of cancer including leukemia. Here, we investigated LEF1 isoform expression and genomic variations in acute lymphoblastic leukemia (ALL). Methods: LEF1 isoform expression was evaluated by quantitative real-time PCR in 87 newly diagnosed childhood ALL patients and controls. Moreover, Western blot analysis was performed for detection of LEF1 expression and the hotspot region of LEF1 was screened by deep sequencing. Results: The LEF1 mRNA expression of B cell ALL patients was higher than the controls (LEF1-total P = .011, LEF1-long P = .026). Moreover, B-ALL samples showing higher total LEF1 expression had significantly shorter relapse-free survival (P = .008) and overall survival (P = .011). Although full-length LEF1 expression was similar to the controls in T-ALL, 50% (n = 15) of the ALL patients had increased full-length LEF1 protein expression. Imbalance between short- and full-length LEF1 isoforms may lead to cell survival in ALL. Beside the LEF1 activation, LEF1 gene variations were rarely observed in our cohort. Conclusion: The results indicate that the Wnt pathway may have a pathogenic function in a group of ALL patients and high LEF1-total expression might be a marker for shorter relapse-free survival time in B cell ALL. WOS:000639287900001 33844466 Q3

Baris, Safa/0000-0002-4730-9422; kiykim, ayca/0000-0001-5821-3963; FIRTINA, Sinem/0000-0002-3370-8545; Ozen, Ahmet/0000-0002-9065-1901; NG, YUK YIN/0000-0001-9755-6045 Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects in the production of B and/or NK cells Istanbul University Research FundIstanbul University [52575, 20499] This project is supported by Istanbul University Research Fund (No: 52575 and 20499) and Istanbul Bilgi University [Y.Y Ng, 2017)]. WOS: 000463216500006 30903456 Q1