Search Results - "KARACA, Neslihan Edeer"
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1
Successful management of colchicine resistant familial Mediterranean fever patients with a standardized canakinumab treatment protocol: a case series and literature review
Published in Rheumatology international (2020)“…Familial Mediterranean fever (FMF) is the most common monogenic auto-inflammatory disease characterized by recurrent attacks of fever and serositis. Although…”
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2
Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency
Published in Allergy (Copenhagen) (01-10-2022)“…Background Lipopolysaccharide‐responsive beige‐like anchor protein (LRBA) deficiency and cytotoxic T‐lymphocyte protein‐4 (CTLA‐4) insufficiency are recently…”
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3
The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study
Published in Pediatric allergy and immunology (01-07-2020)“…Background There are no data regarding the prevalence of malignancies in patients with primary immunodeficiency (PID) in Turkey. Along with the prevalence of…”
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4
Psychological burden of pediatric primary immunodeficiency
Published in Pediatrics international (01-10-2018)“…Background Primary immunodeficiency disorder (PID), being a chronic disorder, may increase the prevalence of psychopathologies, but there are few studies on…”
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5
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
Published in Case reports in immunology (25-04-2023)“…Background. APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are…”
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6
22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management
Published in Allergologia et immunopathologia (01-01-2021)“…The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of…”
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7
The Quality of Life and Mental Health in Children with Primary Immunodeficiency
Published in The journal of pediatric research (01-03-2019)“…Primary immunodeficiency disorders (PIDs) are characterized by recurrent and numerous infections, autoimmune disorders, and malignancies. These diseases are a…”
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8
Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy
Published in Case reports in immunology (2019)“…DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present with systemic inflammation,…”
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9
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
Published in Case reports in immunology (01-01-2017)“…Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl…”
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10
Does intravenous immunoglobulin therapy prolong immunodeficiency in transient hypogammaglobulinemia of infancy?
Published in Pediatric reports (17-09-2013)“…Transient hypogammaglobulinemia of infancy (THI) is characterized by recurrent infections and one or more reduced serum immunoglobulin levels. Typically, THI…”
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11
Transient hypogammaglobulinemia of infancy and unclassified syndromic immunodeficiencies are highly common in oesophageal atresia patients
Published in Scandinavian journal of immunology (01-02-2024)“…Due to the high rate of post‐operative sepsis and other infectious complications, a routine immunological screening protocol has been initiated since 2015 in…”
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12
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child
Published in Molecular syndromology (01-12-2023)“…Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial…”
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13
Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14‐year‐old Turkish girl
Published in Journal of dermatology (01-05-2007)“…ABSTRACT Juvenile psoriatic arthritis (JPsA) is characterized by asymmetric arthritis of big and small joints, enthesitis, dactylitis, psoriatic skin lesions…”
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14
Investigation of Phagocyte Functions in Pseudomonas-Colonized Cystic Fibrosis Patients
Published in The journal of pediatric research (01-06-2024)“…Aim: Cystic fibrosis (CF) is an autosomal recessive disorder. Although it is considered as an epithelial disease due to impaired chloride transport, its…”
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15
Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants
Published in Turk Pediatri Arsivi (01-09-2020)“…Purine nucleoside phosphorylase deficiency is one of the severe combined immunodeficiencies, which often clinically manifests with recurrent infections,…”
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16
Alterations in B and NK cells highly correlate with disease severity in children with COVID-19
Published in Turkish journal of medical sciences (01-01-2023)“…Children with coronavirus disease 2019 (COVID-19) present milder symptoms than adults and are at lower risk of hospitalization and life-threatening…”
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17
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
Published in Clinical case reports (01-04-2021)“…We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long‐term clinical and…”
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18
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years
Published in Case reports in immunology (10-06-2022)“…Agammaglobulinemia is a rare inherited immunodeficiency disorder. Mutations in the BLNK gene cause low levels of mature B lymphocytes in the peripheral blood…”
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X-linked agammaglobulinemia: ınvestigation of clinical and laboratory findings, novel gene mutations and prevention of ınfective complications in long-term follow-up
Published in American journal of clinical and experimental immunology (01-01-2021)“…Introduction-Objective: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease predominantly with antibody deficiency and characterized by…”
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20
Frequency of Mycobacterium bovis and mycobacteria in primary immunodeficiencies
Published in Turk Pediatri Arsivi (01-09-2017)“…Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in…”
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