Yildiz Camcioglu

İstanbul University-Cerrahpaşa · Department of Pediatrics

The proliferation of antigen-specific lymphocyte clones, the initial step in acquired immunity, is vital for effector functions. Proliferation tests both in immunology research and diagnosis are gaining attendance gradually, while the use of adult healthy individuals as controls of pediatric patients is a question. This study aimed to investigate a...

Background: Primary immunodeficiency diseases (PID) usually presents itself with recurrent, severe, and unusual infections, along with autoimmunity and various other malignancies. But, the diversity of PID often makes the diagnosis of patients difficult for physicians other than clinical immunologists. This study aimed to describe the characterist...

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation,...

T-cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T- and B-cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real-time PCR...

Background: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts...

Background Chronic granulomatous disease (CGD) is characterized by defective microbial killing due to mutations affecting subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Definitive genetic identification of disease subtypes may be delayed or not readily available. Objective We sought to investigate the role of...

Objectives: Clinical and laboratory investigations have revealed that Epstein-Barr virus (EBV) is involved in altered immunological response of systemic lupus erythematosus (SLE). Higher seroprevalence rates of anti-EBV antibodies and increased viral load are demonstrated in adult SLE patients. The prevalence of BK polyomavirus (BKV) reactivation...

Objectives To determine the serotype distribution of pneumococcus causing invasive pneumococcal disease (meningitidis, bacteremia and empyema) in children in Turkey, and to observe potential changes in this distribution in time to guide effective vaccine strategies. Methods We surveyed S. pneumoniae with conventional bacteriological techniques and...

Background: Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by failure of phagocytic leukocytes to destroy certain microbes. We present a study on CGD patients enrolled at a single medical center concerning the infectious and noninfectious complications and genetic properties of the disease. Methods: Icotinamide aden...

Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next‐generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and...

Introduction and objectives Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. Its heterogeneous clinical features include recurrent respiratory tract infections and other complications such as gastrointestinal, autoimmunity, and lymphoproliferative disorders....

Objective: We aimed to determine the reasons for irrational antibiotic use, to evaluate knowledge, attitudes, and behaviors of physicians regarding such use, to find factors affecting knowledge of physicians, and to explore precautions that need to be taken to stop irrational antibiotic use. Material and methods: We performed the study between J...

Giriş: Maligniteli hastaların tedavi sürecindeki en önemli komplikasyon- lardan biri enfeksiyonlardır. Nötropenik hastalarda enfeksiyon kontrolü ve izolasyon önlemleri için merkezden merkeze değişen farklı uygula- malar mevcuttur. Anket çalışmasının amacı Türkiye’deki bu farklılıkları ve ihtiyaçları belirlemektir. Gereç ve Yöntemler: Çok merkezli...

Eikenella corrodens is one of the HACEK bacteria that is commensal microorganism of the oropharngeal flora. E. corrodens has been increasingly reported to cause pyogenic abscesses, especially in diabetic or immunocompromised adults. It is less frequently reported in immunocompotent children. Here, we report a deep neck infection, including the thyr...

Susceptibility to infection is the hallmark of patients with X-linked hyper IgM syndrome, clinical manifestations are observed in the first year of life especially in the gastrointestinal tract

Background and objective: Severe sepsis and septic shock are life-threatening organ dysfunctions and causes of death in critically ill patients. The therapeutic goal of the management of sepsis is restoring balance to the immune system and fluid balance. Continuous renal replacement therapy (CRRT) is recommended in septic patients, and it may impro...

Objective: Tuberculosis (TB) is an important public health problem both in developing and developed countries due to migration with increasing incidence despite control strategies. Various clinical manifestations of extrapulmonary tuberculosis (EPTB) cause delay in diagnosis and treatment. In the present study, we aimed to evaluate the clinical and...

Aim: The aim of this study was to identify the clinical and immunologic features of patients with 22q11.2 deletion syndrome who were followed up in our clinic. Thus, it is aimed to identify the syndrome early, choose the right treatment options according to humoral and cellular immunologic analysis, and enlighten how to follow up these kinds of pa...

Objective: To identify epidemic and other transmissible Pseudomonas aeruginosa strains, genotypic analyses are required. The aim of this study was to assess the distribution of P. aeruginosa strains within the Turkish pediatric cystic fibrosis (CF) clinic population. Methods: Eighteen patients attending the pediatric CF clinic of Cerrahpasa Medical...

Objective: Perianal abscesses are common disorders of childhood. Predisposing conditions like immunodeficiency syndrome and inflammatory bowel disease should be investigated especially in older children. In infants younger than six months of age, the presence of a congenital anomaly such as perianal fistula should be ruled out. In the present study...

Background/aim: The aim of this study is to evaluate the effect of biologic drugs on the tuberculin skin test in patients with juvenile idiopathic arthritis. Materials and methods: A total of 234 biologic drug-using juvenile idiopathic arthritis patients and 45 healthy controls were enrolled in the study. The tuberculin skin test results of th...

Background The etiology of bacterial meningitis in Turkey has been changed after the implementation of conjugated vaccines against Streptococcus pneumonia and Haemophilus influenzae type b (Hib) in Turkish national immunization schedule. Methods. This prospective study was conducted in 25 hospitals located seven regions of Turkey (representing 30%...

Introduction The most effective and concurrently the safest treatment regimen selection is important to provide early control of juvenile idiopathic arthritis (JIA) and to have an acceptable quality of life. The effectivity of biologic agents as well as standard disease-modifying drugs is well documented in treatment of JIA. In spite of their high...

Introduction: The aim of this point prevalence study was to evaluate the consumption, indications and strategies of antifungal therapy within pediatric population in Turkey. Material-methods: A point prevalence study was performed at 25 hospitals. In addition to general data on pediatric units of the institutes, the generic name and indication o...

Aim: Orbital tissue infections are common infections of childhood that can lead to severe complications. Herein, we aimed to evaluate the etiologic factors, diagnosis, follow-up, and treatment procedures in pediatric patients with orbital infections. Material and methods: This study was performed retrospectively between January 2014 and December...

Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency, which is characterized by the dysfunction and/or absence of T lymphocytes. Early diagnosis of SCID is crucial for overall survival, and if it remains untreated, SCID is often fatal. Next-generation sequencing (NGS) has become a rapid, high-throughput techno...

Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. ADA deficiency is a medical emergency. Early diagnosis and treatment could provide low morbidity and mortality. Patients present in the fir...

Significance Chronic mucocutaneous candidiasis (CMC) is defined as persistent or recurrent infections of the skin and/or mucosae by commensal fungi of the Candida genus. It is often seen in patients with T-cell deficiencies, whether inherited or acquired, who typically suffer from multiple infectious diseases. Rare patients are otherwise healthy an...

Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell-intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologue of which is essential for CD28 signali...

Purpose: Human bocavirus (HBoV) is a recently discovered virus which is a member of Parvoviridae family. It is mostly detected in respiratory tract and stool specimens in pediatric patients with the diagnosis of acute respiratory tract infections and gastroenteritis, respectively. Material and Methods: Hospitalized children aged 1-56 months with t...

Atopic dermatitis (AD) is a heterogeneous disease with regard to clinical phenotype and natural history. We investigated T cell subtypes and cytokine responses in peripheral blood and skin lesions of AD patients with various sensitivities. Immunological studies were performed in 27 subjects: 9 house dust mite (HDM)-sensitized; 6 subjects with sensi...

This is an observational epidemiological study to describe causes of bacterial meningitis among persons between 1 month and 18 years of age who are hospitalized with suspected bacterial meningitis in 7 Turkish regions. covering 32% of the entire population of Turkey. We present here the results from 2013 and 2014. A clinical case with meningitis wa...

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detect...

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries...

Varicella is a common, highly contagious viral infection of childhood. Varicella is a usually benign and self-limited disease, but it can be complicated by severe bacterial infections, especially in immunocompromised hosts. In this study, we describe a previously healthy 3-months-old infant who was admitted with high fever, cough, and respiratory d...

Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries...

PubMed reference with all collaborators names including R. Barbouche. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Toubiana J1, Okada S2, Hiller J3, Oleastro M4, Lagos Gomez M5, Aldave Becerra JC6, Ouachée-Cha...

Tracheoesophageal fistula (TEF) is a common congenital anomaly of the respiratory tract that generally presents in the neonatal period. Undetected fistulas without esophageal atresia may present in later stages of life along with chronic lung disease due to repeated aspirations. Congenital TEF must be considered while examining children with recurr...

Aygün FD, Avar-Aydın PÖ, Çokuğraş H, Camcıoğlu Y. Different clinical spectrum of leptospirosis. Turk J Pediatr 2016; 58: 212-215. Leptospirosis is a prevalent zoonotic disease. Human infection usually occurs through exposure to environmental sources. Clinical course of leptospirosis is variable. We presented five patients, aged between 4-14 years,...

Ağır kombine immun yetmezlikler (AKİY), T lenfositlerin gelişimi ve/veya fonksiyonunda bozukluk ile seyreden heterojen bir hastalık grubunu icerir. AKİY lerle ilişkili onlarca gen tanımlanması genetik tanıyı zorlaştırmaktadır. Calışmamızda AKİY ile ilişkili 18 aday geni kapsayan bir yeni nesil dizileme (YND) genetik tanı paneli oluşturulmuştur. AKİ...

Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. Oculocutaneous telangiectasias are almost constant findings among the affected cases as telangiectasia is considered the main clinical finding for diagnosis. Vascular abnormalities in organs have been reported infrequently but bladder wall telangiec...

Successful vaccination policies for protection from invasive pneumococcal diseases (IPD) dependent on determination of the exact serotype distribution in each country. We aimed to identify serotypes of pneumococcal strains causing IPD in children in Turkey and emphasize the change in the serotypes before and after vaccination with 7-valent pneumoco...

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare non-infectious inflammatory bone disease of unknown aetiology. CRMO mainly affects the metaphyses of long bones and spine in children and young adolescents. It presents with recurrent episodes of bone pain and fever, resembling bacterial osteomyelitis, but cultures of lesions are sterile a...

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy pa...

Although tuberculosis of the central nervous system (CNS) is rarely seen, it may cause neurological sequelae and mortality if treatment is delayed. A nineyear- old girl was admitted to our clinic with the complaint of convulsion. Since her convulsions were persistent, steroid treatment had been administered for acute disseminated encephalomyelitis...

Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during...

Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management. We sought to define the clinical features that distinguish DOCK8 deficiency...