Search Results - "Larysa Kostyuchenko"
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DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients
Published in Journal of clinical immunology (01-02-2015)“…Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined immunodeficiency (CID). However, the natural course of disease, long-term…”
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Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections
Published in Clinical immunology (Orlando, Fla.) (01-08-2019)“…Here we describe a 10-year-old girl with combined immunodeficiency presenting as recurring chest infections, lung disease and herpetic skin infections. The…”
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TREC/KREC levels in children with ataxia-telangiectasia
Published in Immunologic research (01-10-2021)“…The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish their informative value…”
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Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine
Published in Frontiers in immunology (28-06-2024)“…Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most…”
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Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
Published in Frontiers in immunology (16-12-2022)“…The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and…”
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Impact of the J Project on progress of primary immunodeficiency care in Ukraine
Published in Central-European journal of immunology (01-01-2021)“…The J Project is a Central-Eastern European collaborative program in the field of physician education and clinical research aimed at improving the clinical…”
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The Konya Declaration for Patients with Primary Immunodeficiencies
Published in Journal of clinical immunology (01-07-2020)Get full text
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Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
Published in Central-European journal of immunology (01-01-2023)“…Autosomal dominant hyper-IgE syndrome (AD-HIES) is an inborn error of immunity (IEI) caused by a dominant-negative mutation in the signal transducer and…”
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Clinical and immunological presentation of ataxia-telangiectasia
Published in Archives of the Balkan Medical Union : the official journal of the Balkan Medical Union (01-12-2020)“…Introduction. Ataxia-telangiectasia (A-T) is a neurodegenerative disorder characterised by progressive ataxia, telangiectasia, immunodeficiency, increased…”
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Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5
Published in Frontiers in immunology (08-01-2021)“…Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The…”
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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Published in Frontiers in immunology (10-06-2020)“…Variants in recombination-activating genes ( ) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe…”
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Published in Journal of allergy and clinical immunology (01-11-2021)“…Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should…”
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Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity
Published in Clinical immunology (Orlando, Fla.) (01-01-2020)“…Germline STAT3 gain-of-function (GOF) mutations have been linked to poly-autoimmunity and lymphoproliferation with variable expressivity and incomplete…”
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
Published in Journal of allergy and clinical immunology (01-10-2023)“…Activated phosphoinositide-3-kinase δ syndrome (APDS) is an inborn error of immunity (IEI) with infection susceptibility and immune dysregulation, clinically…”
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Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome
Published in Clinical cancer research (15-01-2021)“…Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies. We describe the natural history of NBS,…”
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Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options – a Retrospective Analysis
Published in Journal of clinical immunology (01-08-2015)“…Purpose Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and…”
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A Multicentre Study on the Efficacy, Safety and Pharmacokinetics of IqYmune®, a Highly Purified 10% Liquid Intravenous Immunoglobulin, in Patients with Primary Immune Deficiency
Published in Journal of clinical immunology (01-08-2017)“…This multicentre, open-label, prospective, single-arm study was designed to evaluate the efficacy, pharmacokinetics, and safety of IqYmune®, a highly purified…”
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A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual World
Published in Journal of clinical immunology (01-08-2022)Get full text
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Fifteen Years of the J Project
Published in Journal of clinical immunology (01-05-2019)Get full text
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VACCINATION AGAINST HIGH CARCINOGENIC TYPES OF THE HUMAN PAPILLOMA VIRUS IN THE PREVENTION OF CERVICAL CANCER: REALITIES IN WESTERN UKRAINE
Published in Праці Наукового товариства імені Шевченка. Медичні науки (01-06-2018)“…Cervical cancer (CC) is a serious demographic and medical problem in Ukraine, which is the main cause of the death of women in reproductive age in our country…”
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