Search Results - "Yorgun Altunbas, Melek"
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Long‐term immunological changes after corrective cardiac surgery
Published in Scandinavian journal of immunology (01-12-2024)“…Infants with congenital heart disease (CHD) often undergo thymectomy during corrective cardiac surgery (CCS). The long‐term immunological effects remain…”
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Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey
Published in Journal of clinical immunology (01-12-2025)“…Purpose Immunodysregulation, Polyendocrinopathy, Enteropathy, and X-linked syndrome (IPEX), caused by pathogenic FOXP3 variants, is a rare autoimmune disorder…”
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Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
Published in Journal of clinical immunology (01-12-2024)“…Background Immunoglobulin G replacement therapy (IgRT), intravenous (IV) and subcutaneous (SC) routes, is pivotal in treatment of primary immunodeficiencies…”
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Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
Published in Journal of allergy and clinical immunology (01-12-2023)“…LPS-responsive beige-like anchor (LRBA) deficiency (LRBA ) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4 ) are mechanistically…”
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Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study
Published in The Lancet (British edition) (17-02-2024)“…CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is an ultra-rare genetic disorder…”
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Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Published in Journal of clinical immunology (05-04-2024)“…Purpose Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel…”
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MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-09-2024)“…Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells…”
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Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome
Published in Journal of clinical immunology (01-01-2024)“…Purpose Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. The detailed…”
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Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
Published in Clinical immunology (Orlando, Fla.) (01-10-2023)“…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…”
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Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
Published in Clinical immunology (Orlando, Fla.) (01-11-2022)“…Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and…”
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