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Protein kinase C is a family of serine/threonine kinases that play a key role in the adaptive immune cell signaling, as well as regulation of growth, apoptosis, and differentiation of a variety of cell types. Patients homozygous for a null mutation of the Protein Kinase C Delta (PRKCD) gene, present clinical feature of immune dysregulation with susceptibility to Epstein-Barr virus infection. However, a minority of patients present the autoimmune lymphoproliferative syndrome (ALPS). The data were collected by direct interview and examining the patient's clinical record. Whole-exome sequencing was performed to detect the underlying genetic mutation in the patient. We also conducted electronic searches for ALPS-like reported patients in PubMed, Web of Science, and Scopus databases. In this study, we reported a 13-year-old boy who presented with autoimmunity, lymphoproliferation, recurrent pneumonia, cardiomyopathy, and dermatological manifestations. An elevation of double-negative T cells, CD8+ T cells, serum IgG level, as well as a reduction in NK cells, was observed in the patient. A homozygous frameshift mutation (c.1293_1294insA) in exon 13 of the PRKCD gene was confirmed. The literature search showed 39 ALPS-like patients with monogenic defects which only six (15.3%) of them were due to PRKCD genes. PRKCD should be considered in the context of ALPS clinical manifestations with prominent dermatological involvements. [ABSTRACT FROM AUTHOR]

Background: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations. Methods: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. Results: A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0‐20.0) years were enrolled in this study. Overall, 331 patients (72.1%) were born to consanguineous parents. At the time of the study, 330 individuals (75.7%) were alive and 106 (24.3%) were deceased. Autoimmunity was reported in 92 (20.0%) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0‐7.0) years. Sixteen patients (3.5%) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients, 23.0%), ATM (in 13 patients, 14.0%), and BTK (in 9 patients, 10.0%) genes. In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB (100%), 3 of 3 AIRE (100%), and 21 of 30 LRBA (70.0%) mutated genes had the highest prevalence of autoimmunity. Conclusions: Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next‐generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease. [ABSTRACT FROM AUTHOR]

Introduction: This study evaluated the effect of gelfoam impregnated with botulinum toxin on the symptoms induced by allergic rhinitis. Materials and Methods: In total, 30 patients with allergic rhinitis who did not respond to common therapies were included in this clinical trial study. All patients were treated with intranasal gelfoam impregnated with botulinum toxin type a (40 unit in each side) placed in the middle meatus of each nostril. The main symptoms of allergic rhinitis were scored from zero to three by the patients. Symptoms recorded and compared before and two months after the treatment. Result: The mean age of patients was 31.03±6.9 years. The mean score for sneezing was 2.23 before the treatment which significantly decreased to 1.06 after the treatment (P<0.05). The mean scores of rhinorrhea, nasal congestion, and nasal itching were 2.53, 2.03, and 1.93, respectively, before the treatment which significantly decreased to 0.93, 1, and 0.8 after the treatment (P<0.05). No reported side effects was observed in this study. Conclusion: According to the results, treatment with gelfoam impregnated with botulinum toxin is an effective and safe method in patients who have not responded to common therapies for allergic rhinitis. Accordingly, it is recommended to relieve symptoms in patients with seasonal allergic rhinitis in order to maintain the effectiveness of this treatment at least 8 weeks. [ABSTRACT FROM AUTHOR]

Primary immunodeficiency diseases (PIDs) consist of a group of genetic disorders that predispose the patients to immune-mediated complications. The aim of this study was to assess the knowledge of Iranian general practitioners and pediatricians about PIDs. A questionnaire consisting 52 closed questions on clinical symptoms, laboratory data, associated syndromes and management of PIDs patients was made valid and reliable by a pair pilot study. Then the questionnaire was filled by pediatricians, general practitioners and pediatric residents from different regions of Iran. Totally, 333 physicians (50 general practitioners, 52 pediatric residents, 182 pediatric specialists, and 49 pediatric sub specialists) participated in this study. The mean total score was 55.9±14.3 (i.e. about 29 correct answers out of 52 questions). One hundred and five participants (31.9%) answered correctly more than two third of all questions. In order to qualitatively compare the groups a ranking system was used. Total scores was significantly different between physicians groups (p<0.01). Pediatric subspecialties gained the highest rank, which was significantly over the other participants (p<0.05). This study showed that there is a considerable lack of awareness on PIDs in physicians. This may be one of the major reasons in late diagnosis and the delay in adequate treatment deteriorating patients' morbidity and mortality. Retraining classes and reconsidered educating schedules are needed as an efficient strategies and improving physicians' knowledge about PIDs. [ABSTRACT FROM AUTHOR]

Asthma is one of the most common chronic inflammatory disorders in children. Nonadherence to medical therapy is a major cause of poor clinical outcome the objective of this study was evaluating factors, which are resulted in nonadherence to medical therapy in children with asthma. In this descriptive study, 150 children with asthma and nonadherent to medication therapy were enrolled. General information and probable causes of nonadherence were recorded in self-report questionnaire and data were analyzed. In our study, 57.3% of children were male. Approximately 43%of children belonged to age group 6-9 years old. Prevalence of probable causes of nonadherence to treatment were concern about treatment expenses(34.7%) ,fear of cardiac complications(34.7%), concern about drug dependency(38.7%), belief to growth inhibition(30.7%) and fear of osteopenia (32%). There was statistically significant reverse association between treatment with multidrug regimens and concern about bone mineral abnormalities, cardiac complications and drug dependency (p=0.0001, 0.014 and 0.012 respectively). In addition, there was a significant association between mild asthma and fear about drug dependency (p=0.001). According to our results, factors such as prolonged duration of treatment, various therapeutic regimens, and receiving multiple drugs before diagnosis of asthma pose the highest frequencies for nonadherence. [ABSTRACT FROM AUTHOR]

Objective: Drug reactions are common and can be dangerous. 6 to 10 percent of drug reactions are allergic which can be fatal in some cases. In many cases, adverse drug reactions are predictable and can be prevented. Regarding to the points that there was not any study in the field of drug reactions in the Yazd University of Medical Sciences, we aimed to evaluate that. Identifying of drug reaction prevalence and common culprit drugs will help researchers in future studies in this filled to plan for prevention of them. Material and Methods: In a retrospective descriptive study, records of patients who were admitted in shahid sadoughi hospital due to drug reaction from 2011 to 2014 were evaluated. Patient's information such as gender, age, occurred drug reaction, type of drug allergy, duration of hospital stays and the time of drug reaction after drug usage completed in the data form collection. Results: From 154 cases which admitted with adverse drug reaction, 77 cases (50%) were related to drug allergies and 13 (4.8 percent) were drug complications and 64 cases (41.6 %) were drug toxicity. 78 patients were male (50.6 percent) and 76 (49.4 percent) patients were female. 64 patients (41.6 percent) were less than 6 years and 28 patients (18.2%) were 6 to 14 years and 62 patients (40.3 %) were adults. Antiepileptic drugs were the most common causes of drug reactions (31.2 percent) of which the most common drug was lamotrigine (15.6 percent). Drug allergies were categorized in type I, 12 patients (8.7%), type II no case, type III, 9 patients (8.5%) and type, 56 patients (36.8 percent). Finally, five deaths were reported due to drug reaction. Conclusion: Adverse drug reaction was common and remarkable in shahid sadoughi hospitals and from 2011 to 2014 its prevalence had increased. General physicians must be aware of these reactions to evaluate patients with immediate and severe reactions. Reduce the consumption of medication without prescription may also be useful in preventing drug reactions. [ABSTRACT FROM AUTHOR]

Background: In order to support the comprehensive classification of Leukocyte Adhesion Deficiency-I (LAD-I) severity by simultaneous screening of CD11a/CD18, this study assessed clinical, laboratory, and genetic findings along with outcomes of 69 LAD-I patients during the last 15 years., Methods: Sixty-nine patients (40 females and 29 males) with a clinical phenotype suspected of LAD-I were referred to Immunology, Asthma, and Allergy research institute, Tehran, Iran between 2007 and 2022 for further advanced immunological screening and genetic evaluations as well as treatment, were enrolled in this study., Results: The diagnosis median age of the patients was 6 months. Delayed umbilical cord separation was found in 25 patients (36.2%). The median diagnostic delay time was 4 months (min-max: 0-82 months). Forty-six patients (66.7%) were categorized as severe (CD18 and/or CD11a: below 2%); while 23 children (33.3%) were in moderate category (CD18 and/or CD11a: 2%-30%). During the follow-ups, 55.1% of children were alive with a mortality rate of 44.9%. Skin ulcers (75.4%), omphalitis (65.2%), and gingivitis (37.7%) were the most frequent complaints. Genetic analysis of the patients revealed 14 previously reported and three novel pathogenic mutations in the ITGB2 gene. The overall survival of patients with and without hematopoietic stem cell transplantation was 79.3% and 55.6%, respectively., Conclusion: Physicians' awareness of LAD-I considering delayed separation of umbilical cord marked neutrophilic leukocytosis, and variability in CD11 and CD18 expression levels, and genetic analysis leads to early diagnosis and defining disease severity. Moreover, the prenatal diagnosis would benefit families with a history of LAD-I., (© 2023 EAACI and John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.)