A5004954842- Immunodeficiency and Autoimmune Disorders
- Cystic Fibrosis Research Advances
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Myasthenia Gravis and Thymoma
- Allergic Rhinitis and Sensitization
- Adrenal Hormones and Disorders
- Food Allergy and Anaphylaxis Research
- Platelet Disorders and Treatments
- T-cell and B-cell Immunology
- Diabetes and associated disorders
- Contact Dermatitis and Allergies
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Porphyrin Metabolism and Disorders
- Infant Nutrition and Health
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- COVID-19 Impact on Reproduction
- Eosinophilic Esophagitis
- Dermatology and Skin Diseases
- Urticaria and Related Conditions
- Immune responses and vaccinations
- Parvovirus B19 Infection Studies
- Neonatal Health and Biochemistry
- Bacterial biofilms and quorum sensing
Ege University
2021-2024
Center for Rheumatology
2023
ENT and Allergy
2023
Pediatrics and Genetics
2021
Istanbul University
2015
Inborn errors of immunity (IEIs) are a heterogeneous group genetic defects immunity, which cause high rates morbidity and mortality mainly among children due to infectious non-infectious complications. The IEI burden has been critically underestimated in countries from middle- low-income regions the majority patients with these lack molecular diagnosis.We analyzed clinical, immunologic, data 22 Middle East North Africa (MENA) region. was collected national registries diverse databases such...
Abstract We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because our long‐term clinical genetical experiences. Some CVID patients disease‐causing mutations in PLCG2 gene, so it may better define all them “ deficiency.”
Although sideroblastic anemias (SAs) may be associated with different etiologies, deterioration of mitochondrial heme biosynthesis in bone marrow erythroid cells is a general abnormality. Congenital SA immunodeficiency, periodic fever, and developmental delay because loss-of-function mutations the TRNT1 gene. We report patient novel homozygous mutation gene presenting anemia siderocytes, hypogammaglobulinemia, hepatosplenomegaly, brittle hair but without fever or delay. The was presented to...
Hereditary angioedema with C1 inhibitor deficiency (HAE-C1INH) is caused by dysfunctional C1-INH protein due to mutations in the SERPING1 gene encoding C1-INH. Marfan syndrome a genetic connective tissue disease that affects cardiovascular and ocular systems along skeletal system. In this case, we present successful treatment of post-pericardiotomy unresponsive classical therapy, which has not been described literature. The developed patient hereditary (HAE) who underwent open heart surgery...
Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes characterized intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, skin abnormalities. Lipoid proteinosis ECM1 gene deposition of hyaline-like material various tissues resulting heterogenous clinical findings. Case Presentation: Four years after the diagnosis management THES, due to new findings, another reason for underlying features patient was considered....
<b><i>Introduction:</i></b> Inborn errors of immunity (IEIs) are inherited disorders that present with increased susceptibility to infections as well noninfectious complications. Due the aberrant immune functions patients IEI, autoimmune cytopenia (AIC) may be initial finding, which makes diagnosis a challenge. We aimed evaluate clinical course, laboratory findings, and treatment response AIC in children IEI. <b><i>Methods:</i></b> Data...
<b><i>Introduction:</i></b> Immunoglobulin replacement therapy is an effective lifelong treatment modality used in patients with primary immunodeficiency to prevent and/or reduce the incidence of serious infections. Facilitated subcutaneous immunoglobulin (fSCIG) was developed combine advantages intravenous (IVIG) and (SCIG) latest method G (IgG) administration. In this study, switching fSCIG administration receiving regular IVIG or SCIG evaluated, serum IgG trough...
Aim: Cystic fibrosis (CF) is an autosomal recessive disorder.Although it considered as epithelial disease due to impaired chloride transport, its pathogenesis remains unclear.CF classified a syndrome with congenital defects of phagocyte in recent human inborn errors immunity phenotypic classifications.Neutrophils are the most effective cells eradication bacterial infections such Pseudomonas aeruginosa.The aim present study was investigate functions pseudomonas colonized CF patients.Materials...
Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous hypoparathyroidism, adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis treated nonsteroidal anti-inflammatory drugs. During follow-up, autoimmunity, nail dystrophy, onychomycosis were observed. parents consanguineous, targeted...
Objective: Severe immunglobuline E (IgE)-mediated reactions during oral immunotherapy (OIT) are major obstacles to treatment. The present study aimed evaluate and identify clinical laboratory biomarkers of adverse events OIT among children with cow's milk (CM) allergy. Study Design: Eighty-six older than 36 months who had undergone were enrolled. Clinical data, food challenge (OFC) test results, data recorded retrospectively. Results: median duration the build-up phase was 19 weeks (min...
There is limited data about the natural course of egg allergy in literature.We aimed to analyze factors that can affect tolerance or persistence Material-Method: A total number 126 IgE-mediated allergic patient who had gaining were included study.Demographic and laboratory recorded retrospectively.Kaplan-Meier curves was used for estimation resolution related by Cox regression model.Results: Among patients 81(64.2%)had gained with a median survival time 48 months (min:12-max:121).Tolerance...
<title>Abstract</title> Identification of the causes monogenetic common variable immune deficiency (CVID) patients has rapidly increased in last years by means worldwide availability appropriate genetic diagnostic methods. However, up to date, very limited numbers reports demostrating role geography, ethnicity and consanguinity have been published. Here, we reported first study Turkish CVID compared them with results three countries from America, Europe Asia. A total 100 children diagnosed...
Background/aim: Children with coronavirus disease 2019 (COVID-19) present milder symptoms than adults and are at lower risk of hospitalization life-threatening complications. However, the kinetics lymphocyte subsets serum immunoglobulins in peripheral blood during COVID-19 infection remains unclear. In this study, it was aimed to determine changes hematological immunological parameters, especially subsets, children different severity. Materials methods: The study planned as a prospective...
Abstract Due to the high rate of post‐operative sepsis and other infectious complications, a routine immunological screening protocol has been initiated since 2015 in our paediatric surgery clinic for all patients admitted with oesophageal atresia (EA) warrant delayed definitive treatment. In study, we aimed evaluate immunodeficiencies EA patients, by comparing them healthy age‐matched controls. As prospective cohort between 2022, who had their operation after newborn period (>28 days...
Abstract Background: APACED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy. The most often observed clinical findings are chronic mucucutaneous candidiasis, hypoparatiroidism adrenal insufficiency. Case presentation: A three-year-old male patient admitted with classical signs of juvenile idiopathic arthritis began to be treated non-sterodial anti-inflammatory drugs. During follow-up, autoimmunity, nail dystrophy onychomycosis were observed....
Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes peripheral blood leading to recurrent infections. We present four-year-old Turkish boy who had respiratory tract infections last six months. He very IgG (81 mg/dl) and IgA (<5 with high IgM (258 mg/dl). Flow cytometric analysis lymphocyte subsets showed CD19+ cells (0.05%). Homozygous c.790C > T (p.Gln264Ter) mutation was detected Targeted Next...
Introduction: Cystic fibrosis (CF) is an autosomal recessive disorder. Although it considered as epithelial disease due to impaired chloride transport, its pathogenesis not clear. CF classified a syndrome with congenital defects of phagocyte in recent human inborn errors immunity phenotypic classification. Neutrophils are the most effective cells eradication bacterial infections such Pseudomonas aeruginosa . The aim this study was investigate functions pseudomonas colonized cystic patients....