Mehmet Halil Çeliksoy

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.

Heterozygous mutations in the NLRP12 gene have been found in patients with systemic auto-inflammatory diseases. However, the NLRP12-associated periodic fever syndromes show a wide clinical spectrum, including patients without classical diagnostic symptoms. Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel compound heterozygous mutations in NLRP12, identified by whole exome and transcriptome sequencing. CVID is a primary immunodeficiency characterized by low serum immunoglobulins, recurrent bacterial infections and development of malignancy, but it also presents with a magnitude of autoimmune features. Because of the unspecific heterogeneous clinical features of the disease, a delay in diagnosis is common. Secondary, inflammatory (AA type) amyloidosis has infrequently been observed in CVID patients. Based on our case observation and a critical review of the literature, we suggest that NLRP12 mutations might account for a small fraction of CVID patients with severe auto-inflammatory complications.

Is vitamin D insufficiency to blame for recurrent wheezing

Vitamin D (VitD) and its metabolites play important roles in the regulation of the respiratory and immune systems. The aim of this study was to examine serum 25(OH) vitamin D [25(OH)D] levels and VitD deficiency on the development of wheezing and clinical features.

Management of subglottic hemangioma with propranolol

Subglottic hemangioma is a rare but life- threatening condition which requires intervention. It generally starts proliferating in the first and second months of lifespan and whether there is a respiration problem or not, it causes biphasic stridor. Its diagnosis generally requires direct laryngoscopy or direct screening through bronchoscopy. This case report presents a 45-day-old girl who had subglottic hemangioma presenting with wheezing and stridor. Our case took propranolol with a dose of 2 mg/kg/day and within 48 h after the start of the treatment, obstructive symptoms started to alleviate considerably.

Could familial Mediterranean fever gene mutations be related to PFAPA syndrome

The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome.

Psychiatric disorders and symptoms severity in pre-school children with cow's milk allergy.

BACKGROUND Psychiatric disorders are seen frequently in atopic diseases. The present study aims to evaluate the frequency of psychiatric disorders and the severity of psychiatric symptoms in pre-school children with cows milk allergy. METHODS The parents of the pre-school children with cows milk allergy were interviewed in person and asked to fill out the Early Childhood Inventory-4 form. RESULTS The cows milk allergy group included 40 children (27 male, 13 female) with mean age, 44.5±14.7 months, and the control group included 41 children (25 male, 16 female) with mean age, 47.6±15.2 months. It was established that 65% of the group with cows milk allergy received at least one psychiatric diagnosis, while 36.6% of the control group received at least one psychiatric diagnosis, with a statistically significant difference (p=0.02). Within the psychiatric disorders, attention deficit hyperactivity disorders (odds ratio: 4.9, 95% CI: 1.472-16.856, p=0.006), oppositional defiant disorder (odds ratio: 5.6, 95% CI: 1.139-28.128, p=0.026), and attachment disorder (odds ratio: 4.8, 95% CI: 1.747-13.506, p=0.004) were found significantly higher compared with the healthy control group. When the groups were compared in terms of psychiatric symptom severity scores, calculated by using the Early Childhood Inventory-4 form, attention deficit hyperactivity disorders severity (p=0.006) and oppositional defiant disorder severity (p=0.037) were found to be higher in the cows milk allergy group. CONCLUSION Psychiatric disorders are frequent and severe in pre-school children with cows milk allergy.

Cutaneous leukocytoclastic vasculitis associated with anti‐tuberculosis drugs

Leukocytoclastic vasculitis (LCV), a disease characterized by inflammation of the small vessels, presents with palpable purpura, especially in the lower extremities. Its etiology is known to include drugs, infection, collagen tissue disease, and malignancy, but LCV caused by anti‐tuberculosis drugs is very rarely seen. This report describes the case of a 12‐year‐old girl who developed LCV with rifampicin and ethambutol while undergoing anti‐tuberculosis treatment due to extensive pulmonary involvement.

Comparison of major lymphocyte subpopulations and recent thymic emigrants in patients with ataxia telangiectasia and age-matched healthy groups.

BACKGROUND Ataxia telangiectasia (A-T) is a genetic disorder caused by the homozygous mutation of the A-T mutated gene. It is frequently associated with variable degrees of cellular and humoral immunodeficiency. However, the immune defects in A-T patients are not well characterized. To the best of our knowledge, no studies have focused on the major lymphocyte subpopulations and recent thymic emigrants of A-T patients in comparison with age-matched healthy controls. METHODS Following the European Society for Immunodeficiencies criteria, 17 patients diagnosed with A-The, and 12 age-matched healthy children were assigned to the study. Both patients and healthy controls were grouped as 1-5, 6-10, 11-15, and 15+ years. By using a flow cytometer, major lymphocyte subpopulations and CD4+CD45RA+CD31+ recent thymic emigrants were determined as percentage and absolute cell numbers and compared. RESULTS No significant differences in all lymphocyte subpopulations were observed between the age groups of A-T patients. Compared to the healthy controls, there was a decrease in T cells, effector memory T4 cells, B cells, naïve B cells, naïve T4 cells, switched B cells, and recent thymic emigrants and an increase in active T8 cells and non-switched B cells in the percentage and absolute number of some cell populations in the A-T group. CONCLUSIONS This study showed that effector functions in some cell lymphocyte populations were decreased in A-T patients.

Characteristics of venom allergic reactions in Turkish beekeepers and alternative treatment modalities

The objective of this work was to determine the characteristics of allergic reactions that may occur after a bee sting and alternative treatment methods in Turkish beekeepers.

Assessment of skills using a spacer device for a metered-dose inhaler and related independent predictive factors in caregivers of asthmatic preschool children

The correct use of inhalation devices is essential for successful therapy. We aimed to evaluate the skills in the use of a spacer device with an metered‐dose inhaler (MDI) and factors that influence this skill in asthmatic preschool childrens caregivers.

Demographics and clinical characteristic of patients diagnosed with hen's egg allergy

Aim: To assess the demographics, clinical characteristics and natural course of patients diagnosed with hen’s egg allergy. Material and Methods: Patients who were diagnosed with hen’s egg allergy were included in this study. The patients’ medical records were analyzed to collect demographic and clinical data. Result: 88 patients diagnosed with hen’s egg allergy were included in the study. 46 (52.3%) of the patients were male, their median age was 33 months and their median follow-up period was 18 months. 44 (50%) of the patients had comorbid atopic disease. 49 (55.7%) of the children’s parents had a diagnosis of atopic disease, while 5 (5.7 %) had a diagnosis of food allergy. In terms of the patients’ clinical symptoms, 86 (97.7%) had cutaneous symptoms, 16 (18.2%) had gastrointestinal system symptoms, 13 (14.8%) had respiratory system symptoms. In the follow-up, 43 (48.9%) of the patients were found to develop tolerance. When the patients allergic to egg white and those allergic to egg yolk were compared in terms of clinical findings, atopic eczema exacerbation was found to be more frequent (p=0.012) in patients allergic to egg white; while urticaria (p=0.005) and cough (p=0.012) were found to be more frequent in patients allergic to egg yolk. Conclusion: In clinical presentations that develop as a result of egg allergy, the most frequent symptoms are dermatological, gastrointestinal system and respiratory system symptoms, respectively. However, while atopic eczema exacerbations are more frequent in patients allergic to egg white, symptoms related with respiratory tract are more common in patients allergic to egg yolk.