Prevalence of and risk factors for atopic dermatitis: A birth cohort study of infants in southeast Turkey

PubMedID: 26589340Background: Atopic dermatitis (AD) is most common in the first year of life. The aim of this study was to determine the prevalence of and risk factors for AD in a birth cohort of infants from southeast Turkey. Methods: Adana Paediatric Allergy Research (ADAPAR) birth cohort study was derived from 1377 infants who were born in Cukurova University, Medical Hospital, Adana, Turkey between February 2010 and February 2011. At birth, a physical examination was performed, cord blood samples were taken, and the mother completed a baseline questionnaire that provided data on gestational conditions, family history of allergic diseases and environmental exposures. Follow-up visits scheduled at 3, 6, and 12 months included an infant physical examination and an extended questionnaire. Skin prick test was performed and food-specific IgE levels were measured at 6 and 12 months. Atopic dermatitis was diagnosed based on confirmatory examination by a physician. Results: Of the 1377 infants enrolled, 59 (4.3%) were diagnosed with AD as of 12 months. Maternal allergic disease (ORs 6.28, 95% CI 1.03-38.30; p = 0.046), maternal infection during gestation (ORs 3.73, 95% CI 1.25-11.09; p = 0.018), and presence of food allergy (ORs 13.7, 95% CI 3.07-61.0; p = 0.001) were identified as risk factors for AD. Breastfeeding and cord blood IgE levels were not identified as risk factors. Conclusions: In this cohort we found prevalence of AD as 4.3% during the first year of life. Positive family history of atopic diseases, prenatal infections and presence of food allergy are the risk factors for early presentation of AD. © 2015 SEICAP.Çukurova ÜniversitesiThis study was supported by a research Grant ( TF2010LTP17 ) from Çukurova University

Fraction of exhaled nitric oxide as a predictor in juvenile idiopathic arthritis progression

PubMedID: 27511473In this study, the relation between the nitric oxide (NO) levels in the serum and fraction of exhaled nitric oxide (FENO) in children with juvenile idiopathic arthritis (JIA) and the activation criteria of the disease has been investigated. The study group consisted of 35 JIA-diagnosed patients and 18 healthy children. According to the clinical and laboratory findings, the patients with JIA were divided into two groups, active (group I) and in remission (group II). The healthy children were classified as group III. The activation criteria of the disease were determined for each patient. The serum NO level and FENO level were measured in all the patients. In the group with JIA, correlation was detected between FENO level and number of involved joints and number of joints with limited motion. In addition, correlation was determined between the FENO level and number of involved joints in group I and the serum NO level and activity score in group II. However, it was seen that there is no statistical difference in the serum NO level and FENO level of the patients with JIA and the control group and groups I and II. This study demonstrated the correlation between FENO level and number of involved joints and number of joints with limited motion in patients with JIA. Our results matter in terms of FENO being a noninvasive laboratory marker in following the progression of the disease. © 2016, International League of Associations for Rheumatology (ILAR)

Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor ß1 and biotinidase deficiencies

PubMedID: 30968642In this report, we described an infant with both partial biotinidase and IL-12Rß1 deficiencies as these two entities are rare and unrelated inherited disorders. One-month-old girl was diagnosed as partial biotinidase deficiency with newborn screening programme. Mutation analysis revealed a compound heterozygous mutation BTD: c.1330G>C (p.Val444Leu) / c.196_197dupCATC (p.Leu69HisfsTer24). At the age of 6 months, a nodule on her left axilla with purulent discharge was noticed which was related to BCG vaccination. A mutational analysis revealed a homozygous c.783+1G>A mutation on IL-12Rß1 gene. Interferon-gamma and anti-tuberculosis treatment were initiated together and the nodule with purulent discharge regressed dramatically. Here, we want to emphasize consideration of coexistence of two rare autosomal recessively inherited diseases in a patient due to the high rate of consanguinity in our country. © 2018, Turkish Journal of Pediatrics. All rights reserved

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene

PubMedID: 30072168Background: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels, and clinically by extracellular bacterial infections which mainly compromise the respiratory tract. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA. Methods: Twenty-two children with XLA from 12 unrelated families were enrolled in this study. Clinical and demographic features of patients, serum immunoglobulin levels, percentage of B cells and BTK gene mutations were reviewed retrospectively. Results: We identified 12 different mutations in 22 patients from 12 unrelated families. The most frequent type of mutation was premature stop codon (33.3%). Ten mutations had been reported previously including three missense mutations (c.1774T>C, c.1684C>T, c.83G>T), three premature stop codons (c.1558C>T, c.1573C>T, c.753G>A), two splice-site (c.683-1G>A, c.1567-12_1567-9delTTTG) and two small nucleotide deletions (c.902-904_delAAG, c.179_181delAGA). Two novel mutations of the BTK gene were also presented and included one splice-site mutation (c.391+1G>C) and one premature stop codon mutation (c.1243_1243delG). Six out of 12 mutations of the BTK gene were located in the SH1 domain, two in the PH domain, two in the SH3 domain and two in the SH2 domain. Three patients had a history of severe infection before diagnosis. We did not identify any correlation between severity of clinical symptoms and the genotype. Conclusions: Our results show that mutations in southeast Turkey could be different from those in the rest of the world and molecular genetic tests are an important tool for early confirmed diagnosis of XLA. © 2018 SEICA

Disease severity and genotype affect physical growth in children with familial mediterranean fever

Objectives: This study aims to analyze the growth parameters in children with familial Mediterranean fever (FMF) according to disease characteristics including genotype and disease severity by a recently validated tool in relatively more patients. Patients and methods: This retrospective study included 126 patients with FMF (70 males, 56 females; mean age 7.3±3.6 years; range, 4.1 to 18 years). MEditerranean FeVer (MEFV) gene analysis was performed with a molecular diagnostics tool by using a next-generation sequencing platform. Disease severity was determined for the first visit by the validated tool in children, international severity scoring system for FMF. Growth parameters including weight and height were investigated after standard deviation (SD) scores were calculated by anthropometric references in Turkish children. Results: Median follow-up duration was 74.7 months (range, 7.5 to 169 months). Ninety-three patients (73.8%) had at least one M694V mutation in MEFV gene. Six patients (4.8%) had severe disease, 58 (46%) had intermediate severity, and 62 (49.2%) had mild disease. Mean height SD score was significantly lower at last visit than before colchicine treatment. Initial and last height and weight SD scores were lower in patients with at least one M694V mutation than those without. However, the difference was statistically significant for only initial height SD score. We also found statistically significant lower initial height, final height, and weight SD scores in patients with intermediate severity-severe disease activity than mild disease. Conclusion: We advise physicians to score disease severity prospectively and pay attention to patients with intermediate severity-severe disease to avoid growth disturbances. © 2019 Turkish League Against Rheumatism

Autoimmune manifestations in heterozygote type i complement 2 deficiency: A child eventually diagnosed with systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disorder resulting in a broad spectrum of manifestations in several organs, mainly skin and kidney. SLE occurs with interaction of genetic and environmental factors. The most remarkable genetic predisposition to SLE is deficiency of early components of the classical complement pathway. A five-year-old, previously healthy female patient was admitted to our hospital with headache, fever, focal partial seizure, diagnosed and treated as encephalitis. She was re-admitted to our hospital at six years of age with fever, fatigue, alopecia and oral aphthous ulcers and necrotizing vasculitis on extremities. Significant hypocomplementemia, anemia, proteinuria and positive autoantibodies and coombs test led to the diagnosis of SLE. Due to early disease onset and distinct autoimmune manifestations, we diagnosed our patient with type I complement 2 (C2) deficiency with a frameshift mutation in C2 gene and a serum C2 level of <0.2 mg/dL. To our knowledge, this is the first case of genetically confirmed and successfully treated hereditary C2 deficient SLE patient diagnosed with necrotizing vasculitis. We wish to highlight that distinctive autoimmune manifestations should guide physicians to research on monogenic lupus, particularly C2 deficiency, even in the absence of coexisting recurrent pyogenic infections. © 2019 Turkish League Against Rheumatism. All rights reserved