Publications by authors named "Fazil Orhan"

Article Synopsis
  • STAT3 gain-of-function disease causes issues like immune system overactivity and growth problems, but long-term treatment with the JAK inhibitor ruxolitinib has shown promise in symptom relief.
  • The study monitored clinical and immune responses of four patients over a year, noting significant changes in T cell populations and the normalization of blood cell profiles, which were previously dysregulated.
  • Ruxolitinib treatment not only managed symptoms but also modified harmful immune cell characteristics and reduced certain auto-reactive T-cell clones, suggesting a potential pathway to better control the disease's impact.
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Background: Diagnosing anaphylaxis in children within the first 2 years of life can be difficult due to the often confusing and nonspecific signs and symptoms.

Objective: This study focuses on the phenotype of anaphylaxis in children within the first 2 years of life and aims to increase awareness of anaphylaxis in this age group.

Methods: The study included children between 0 and 2 years who were diagnosed as having anaphylaxis by pediatric allergists in 11 tertiary hospitals.

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Article Synopsis
  • IPEX is a rare autoimmune disorder caused by FOXP3 variants, presenting diverse symptoms like early-onset diabetes, eczema, and enteropathy, creating challenges in diagnosis and management.
  • A study of 12 IPEX patients analyzed clinical features and immunological characteristics, revealing a distinction between classical and atypical cases, with atypical patients showing more allergic symptoms and severe chronic diarrhea.
  • Most patients were treated with immunosuppressants or underwent hematopoietic stem cell transplantation, with HSCT showing the most effective long-term control of symptoms, and sirolimus providing better outcomes than other immunosuppressants.
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Article Synopsis
  • Immunoglobulin G replacement therapy (IgRT) is critical for treating primary immunodeficiencies (PID), and a new method called facilitated subcutaneous immunoglobulin (fSCIG) combines the benefits of intravenous and subcutaneous treatments.
  • A study was conducted with 29 PID patients to assess the efficacy, safety, and patient satisfaction of fSCIG over 12 months, finding it generally effective with some mild and local adverse reactions.
  • Results showed that while no severe reactions were reported and targeted IgG levels were achieved, patient satisfaction significantly increased over time, supporting the use of fSCIG despite some localized side effects.
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Studies of cold-induced urticaria (ColdU) in pediatric patients are limited and not well characterized. The objective of the study was to investigate the characteristics of ColdU in children. A multicenter, retrospective chart review was performed in children ages ≤18 years diagnosed with ColdU at 11 pediatric allergy and immunology centers in Turkey between September 1, 2010, and August 31, 2022.

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Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency.

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Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs.

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Introduction: Food protein-induced enterocolitis syndrome (FPIES) is a rare non-IgE, cell-mediated food allergy disorder. We aimed to report the demographic characteristics, clinical features, and management of pediatric patients with FPIES.

Methods: This retrospective study included all children diagnosed with FPIES at the pediatric allergy departments of the participating twelve study centers from January 2015 to November 2020.

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Several factors that increase the risk of severe food-induced anaphylaxis have been identified. We aimed to determine the demographic, etiologic, and clinical features of food-induced anaphylaxis in early childhood and also any other factors associated with severe anaphylaxis. We carried out a medical chart review of anaphylaxis cases from 16 pediatric allergy and immunology centers in Turkey.

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Background: Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes.

Methods: We studied 34 IEI patients (19M/15F, 12 [min: 0.

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity.

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Food allergies (FA) are an important public health concern that place a major burden on the lives of children and their families. The complex pathogenesis of FAs results in multisystemic and heterogenous clinical presentations. To evaluate, according to immune mechanisms, the characteristics and risk factors of childhood FA in Turkey.

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Background: Urticaria can be the only sign of a food allergy or can be seen together with other signs and symptoms of a food allergy.

Objective: To determine the demographic, etiologic, and clinical features of food-induced acute urticaria in childhood.

Methods: Patients suspected of food-induced acute urticaria were included in this prospective cross-sectional multicenter study.

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Background/aim: Hymenoptera venom allergy is one of the leading causes of systemic allergic reactions in both adults and children. The present study was conducted to evaluate the prevalence and characteristics of Hymenoptera venom allergy in urban school children aged 6 to 18 years living in Trabzon.

Materials And Methods: In this cross-sectional, two-level survey study, children were recruited using random sampling of public primary and secondary schools.

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Background: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population.

Methods: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017.

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Background: Amitriptyline ingestion is an important cause of poisoning morbidity and mortality in Turkey and other countries. In contrast to adults, data concerning amitriptyline intoxication in children are limited. The purpose of this study was to investigate amitriptyline intoxication findings in the pediatric population, based on age groups and reported dosages.

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Objective: Continued progress in our understanding of the food protein-induced allergic proctocolitis (FPIAP) will provide the development of diagnostic tests and treatments. We aimed to identify precisely the clinical features and natural course of the disease in a large group of patients. Also, we investigated the predicting risk factors for persistent course since influencing parameters has not yet been established.

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Objective: We aimed to share our observations on the demographics, clinical characteristics, and outcomes of lymphonodular hyperplasia (LNH) in children.

Subjects And Methods: The study included children on whom colonoscopy was performed between January 2015 and May 2018 (n = 361). Demographics, treatment modalities, and outcomes of the patients with LNH were recorded.

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Background: Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017.

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Kawasaki disease is the second most common cause of childhood vasculitis. Cutaneous manifestation, which is the diagnostic criteria of Kawasaki disease, may show atypical course and causes conflict in diagnosis for physicians. A 14-month-old girl treated with intravenous immunoglobulin after diagnosed with KD.

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Background: The prevalence of immunoglobulin E (IgE) mediated beef allergy in childhood is unknown. We investigated the prevalence and characteristics of IgE-mediated beef allergy in urban schoolchildren.

Methods: This cross-sectional study recruited 6000 randomly selected urban schoolchildren ages 6-17 years from the city center of Giresun in the eastern Black Sea region of Turkey during 2013.

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Background: The severe cutaneous adverse drug reactions (SCARs) are rare but could be life-threatening. These include drug reaction with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome, toxic epidermal necrolysis (TEN), and acute generalized exanthematous pustulosis.

Objective: The purpose of this study was the evaluation of the clinical characteristics of patients with the diagnosis of SCARs.

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Çakır M, Sağ E, Mungan S, Akbulut UE, Orhan F. Esophageal eosinophilia in children: A 6-year single-center experience. Turk J Pediatr 2017; 59: 369-378.

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Article Synopsis
  • A study was conducted in Turkey to determine the prevalence and characteristics of kiwifruit allergy among urban schoolchildren aged 6-18, focusing on IgE-mediated responses.
  • Out of 20,800 children surveyed, the parental-reported prevalence of kiwifruit allergy was 0.5%, with 72 cases identified.
  • Among those tested, 32.7% displayed a positive reaction to kiwifruit, with skin prick tests revealing cutaneous, gastrointestinal, and bronchial symptoms as the most common reactions.
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