The MEFV gene and its association with familial Mediterranean fever, severe atopy, and recurrent respiratory tract infections

BACKGROUND: Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease and is characterized by self-limiting episodes of fever and polyserositis. The aim of this study was to determine the atopic clinical findings associated with the MEFV gene. METHODS: A retrospective chart review was conducted of pediatric patients who had received a diagnosis of familial Mediterranean fever between August 2015 and November 2018. RESULTS: A total of 454 patients with familial Mediterranean fever were evaluated. The median age of diagnosis was 60 months (min-max: 6-228) and the percentage of patients who were male was 57.5%. A MEFV gene mutation was determined in 310 (68.3%) children. The most frequent genetic mutation was a R202Q heterozygote mutation, which was found in 95 patients (20.9%). When compared with MEFV-negative patients, elevation of serum amyloid A and fibrinogen levels during an episode of FMF was found to occur more frequently in MEFV-positive patients (p = 0.019 and 0.027, respectively). Male gender, cigarette exposure, and a younger diagnosis age were seen more frequently in patients who had episodes with fever (p = 0.039, 0.022, and 0.001, respectively). Chronic cough with sputum and persistent purulent rhinitis were more frequent in the group which did not experience fever episodes (p = 0.003 and 0.002, respectively). CONCLUSIONS: While being a periodic fever syndrome, familial Mediterranean fever also presents as a multisystemic disease with heterogeneous clinical symptoms. Severe atopic diseases and recurrent respiratory tract infections are characteristic features of this disease

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The role of active B cells in allergen immunotherapy

Background: The purpose of this study is to examine the changes in B lymphocyte subsets in patients receiving allergen immunotherapy. Methods: B lymphocyte subsets of patients before immunotherapy and one year after immunotherapy began were examined using the flow cytometric method. Age-matched healthy children served as the control group. Results: Twenty-two patients with asthma and/or allergic rhinitis and 14 healthy, age-matched controls were included in the study. The median age of the patients was 13 years old (range: 6-20 years), and eleven (50.0%) were male. The median age of the healthy controls was also 13 years old (range: 7-17), and seven (50.0%) were male. In the age group from 11 to 15 years; the patients’ relative and absolute counts of active and mature sensitive B cells were higher than those of the healthy children (p = 0.027-0.012 and p = 0.032-0.010, respectively) before immunotherapy. The relative and absolute counts of active B cells before immunotherapy were also significantly higher than those of after immunotherapy (p = 0.001-0.001, p = 0.025-0.037, and p = 0.029-0.035, respectively). Before immunotherapy, the relative and absolute counts of mature sensitive B cells were significantly higher than those obtained after immunotherapy (p = 0.024-0.006) in the 11–15-year-old age group. Conclusions: Allergen immunotherapy directly influences B cell differentiation and causes a decrease in the count of active B cells. This finding is relevant because the B cell count can be used as a guide in the assessment of an individual patient's treatment response and also when determining whether to continue the immunotherapy (AU)

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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 cow's milk allergy. METHODS: The parents of the pre-school children with cow's milk allergy were interviewed in person and asked to fill out the Early Childhood Inventory-4 form. RESULTS: The cow's 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 cow's 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 cow's milk allergy group. CONCLUSIONS: Psychiatric disorders are frequent and severe in pre-school children with cow's milk allergy

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A comparison of B cell subsets in primary immune deficiencies that progress with antibody deficiency and age-matched healthy children

BACKGROUND: The objective of this study was to examine the B lymphocyte subsets in primary immunodeficiency that progress with antibody deficiency. METHODS: The patients' naive, memory, class-switched memory and non-switched memory B cells were compared with those of healthy individuals of matching ages using flow cytometry. RESULTS: A total of 67 patients with antibody deficiency and 28 healthy children of matching ages were included in the study. The median age of the patients was six years (min-max: 1-24) and 40 (59.7%) were male. The median age of the healthy controls was again six years (min-max: 1-17) and 12 (42.8%) were male. Patients with common variable immunodeficiency had higher relative counts of naive cells when compared with the control group; however, they were found to have lower relative counts of memory, relative and absolute counts of non-switched and relative counts of switched B lymphocytes (p = 0.001, 0.023, 0.003-0.003, 0.001, respectively). In patients with selective IgA deficiency, similar to patients with common variable immunodeficiency, the relative counts of naive cells were found to be higher, while the relative counts of memory and relative and absolute counts of non-switched B lymphocytes were found to be lower when compared with the control group (p = 0.011, 0.032, 0.006-0.009, respectively). Although patients with selective IgM deficiency had higher relative counts of naive B cells when compared with the control group, they had lower relative and absolute counts of non-switched B lymphocytes (p = 0.008-0.016). CONCLUSIONS: The B lymphocyte subsets of patients with selective IgA deficiency are largely similar to those of patients with common variable immunodeficiency. Both illness groups exhibit low levels of memory B cells

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Psychiatric disorders and symptoms severity in preschool children with atopic eczema

BACKGROUND: To compare with a control group the frequency of psychiatric disorders and severity of psychiatric symptoms in preschool children with atopic eczema. METHODS: The study included children between the ages of 3-5 who were diagnosed to have atopic eczema. The parents of the children with atopic eczema were interviewed in person and were asked to fill in 'The Early Childhood Inventory-4' form. This form assesses the psychiatric disorders and symptoms severity in children between the ages of 3-5. RESULTS: The atopic eczema group included 80 patients (38 male, 42 female) with a mean age of 48.4 ± 15.7 months and the control group included 74 patients (41 male, 33 female) with a mean age of 49.9 ± 15.19 months. It was established that 68.8% of the group with atopic eczema received at least one psychiatric diagnosis. Between the psychiatric disorders, ADHD (Odds ratio: 2.57, 95% CI: 1.049-6.298, p = 0.035), enuresis and encopresis (Odds ratio: 2.39, 95% CI: 1.121-5.097,p = 0.022) and attachment disorder (Odds ratio: 2.03, 95% CI: 1.046-3.953, p = 0.035) were found to be significantly higher when compared with the healthy control group. When the groups were compared in terms of psychiatric symptom severity scores calculated by using ECI-4, ADHD severity (p = 0.043), conduct disorder severity (p = 0.001), anxiety disorders severity (p < 0.001), eating disorders severity (p = 0.011) and tic disorder severity (p = 0.01) were found to be higher in the atopic eczema group. CONCLUSION: Psychiatric illnesses are frequent in preschool children with atopic eczema

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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

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