Travaux scientifiques

Doç. Dr. Sevgi Bilgiç Eltan

90 publications. La source de l’information est indiquée à côté de chaque publication.

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  1. Genomic Dissection of Pediatric Protein-Losing Enteropathy and Related Disorders: Clinical, Immunologic, and Therapeutic Insights

    Gastroenterology, 2026

    DOI 10.1053/j.gastro.2025.10.022 PMID 41686101 Source : OpenAlex

  2. When cure is not enough: Parental anxiety, depression, and caregiver burden after HSCT for inborn errors of immunity

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2026

    DOI 10.1111/pai.70543 PMID 42969273 Source : Europe PMC

  3. Beyond immune recovery: Quality of life and psychosocial challenges in children with inborn errors of immunity after transplantation

    Irish journal of medical science, 2026

    DOI 10.1007/s11845-026-04480-2 PMID 42287508 Texte intégral en libre accèsSource : Europe PMC

  4. Immune Checkpoint Dysfunction Remodels Adaptive Immune Receptor Repertoires in CTLA-4 Insufficiency and LRBA Deficiency

    Clinical reviews in allergy & immunology, 2026

    DOI 10.1007/s12016-026-09209-8 PMID 42895678 Source : Europe PMC

  5. Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signatures

    Frontiers in Pediatrics, 2026

    DOI 10.3389/fped.2026.1810945 PMID 42311911 Texte intégral en libre accèsSource : OpenAlex

  6. Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

    Journal of Clinical Immunology, 2026

    DOI 10.1007/s10875-025-01972-1 PMID 41493669 Texte intégral en libre accèsSource : OpenAlex

  7. A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation

    Journal of human immunity, 2026

    DOI 10.70962/jhi.20250227 PMID 42273361 2 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  8. SPINK5 Variants Drive Clinical Variability in Netherton Syndrome Through Th2/Th17 Skewing and Influence Therapeutic Outcomes

    The Journal of Allergy and Clinical Immunology In Practice, 2026

    DOI 10.1016/j.jaip.2026.01.009 PMID 41611084 Source : OpenAlex

  9. Triggers, clinical spectra and outcomes of pediatric anaphylaxis in a tertiary center: impact of comorbidities and cofactors on severity

    Allergy Asthma and Clinical Immunology, 2026

    DOI 10.1186/s13223-026-01033-1 PMID 42321881 Texte intégral en libre accèsSource : OpenAlex

  10. Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges

    Frontiers in Immunology, 2026

    DOI 10.3389/fimmu.2025.1735023 PMID 41583441 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  11. A Comprehensive Assessment of Health-Related Quality of Life in Hereditary Angioedema as a Patient-Centered Approach

    International Archives of Allergy and Immunology, 2026

    DOI 10.1159/000550399 PMID 41505386 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  12. The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

    Journal of Clinical Immunology, 2026

    DOI 10.1007/s10875-026-01989-0 PMID 41790376 Texte intégral en libre accèsSource : OpenAlex

  13. Monocyte plasticity and HLA-DR expression in patients with X-linked agammaglobulinemia

    Immunologic Research, 2025

    DOI 10.1007/s12026-025-09690-x PMID 40970998 Source : OpenAlex

  14. Expansion of Myeloid‐Derived Suppressor Cells and Lymphocyte Apoptosis Beyond B‐Cell Deficiency in X‐Linked Agammaglobulinemia

    Scandinavian Journal of Immunology, 2025

    DOI 10.1111/sji.70063 PMID 41208023 Texte intégral en libre accèsSource : OpenAlex

  15. Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiency

    Journal of Allergy and Clinical Immunology, 2025

    DOI 10.1016/j.jaci.2025.08.027 PMID 40967277 9 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  16. Comprehensive αβ T‐Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8‐Deficient Patients

    Allergy, 2025

    DOI 10.1111/all.16580 PMID 40346988 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  17. Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

    Journal of clinical research in pediatric endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2024.2024-1-17 PMID 39113392 2 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  18. Cross-sectional Analysis of Health Quality, Treatment Satisfaction and Adherence in Children with Food Allergy

    Clinical and Experimental Health Sciences, 2025

    DOI 10.33808/clinexphealthsci.1589757 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

  19. The Discrepancy Between Perceived and Proven Drug Hypersensitivity in a Well-Defined Cohort of Patients With Inborn Errors of Immunity

    Allergy, 2025

    DOI 10.1111/all.16570 PMID 40298338 2 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  20. Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

    Turkish Archives of Pediatrics, 2025

    DOI 10.5152/turkarchpediatr.2025.24172 PMID 39804022 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  21. Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye

    Mycoses, 2025

    DOI 10.1111/myc.70086 PMID 40607896 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  22. Clinical and Immunological Prognostic Factors With Novel Variants in a Large Cohort of Diacylglycerol Acyltransferase 1 Deficiency

    The Journal of Allergy and Clinical Immunology In Practice, 2025

    DOI 10.1016/j.jaip.2025.03.026 PMID 40154740 1 citation (OpenAlex) Source : OpenAlex

  23. Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

    Frontiers in Immunology, 2025

    DOI 10.3389/fimmu.2025.1662858 PMID 41346588 Texte intégral en libre accèsSource : OpenAlex

  24. Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report

    Immunologic Research, 2025

    DOI 10.1007/s12026-025-09638-1 PMID 40379838 Source : ORCID

  25. Successful Use of Haploidentical HSCT in a Child With Schimke Immuno‐Osseous Dysplasia Who Developed PTLD After Kidney Transplantation

    Pediatric Transplantation, 2025

    DOI 10.1111/petr.70234 PMID 41320805 1 citation (Europe PMC) Source : ORCID

  26. Triggers, Clinical Spectrum and Outcomes of Pediatric Anaphylaxis in a Tertiary Center: Impact of Comorbidities and Cofactors on Severity

    2025

    DOI 10.22541/au.175688662.28429737/v1 Source : ORCID

  27. Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions

    European Annals of Allergy and Clinical Immunology, 2025

    DOI 10.23822/eurannaci.1764-1489.383 PMID 39745421 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  28. Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience

    Çocuk Dergisi / Journal of Child, 2025

    DOI 10.26650/jchild.2024.1584011 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  29. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort

    The Journal of Allergy and Clinical Immunology In Practice, 2024

    DOI 10.1016/j.jaip.2024.06.046 PMID 38996837 7 citations (Europe PMC) Source : OpenAlex

  30. Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

    Journal of Clinical Immunology, 2024

    DOI 10.1007/s10875-024-01759-w PMID 38954121 14 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  31. 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

    The Lancet, 2024

    DOI 10.1016/s0140-6736(23)02358-9 PMID 38278170 26 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  32. Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome

    Journal of Clinical Immunology, 2024

    DOI 10.1007/s10875-023-01620-6 PMID 38129713 10 citations (Europe PMC) Source : ORCID

  33. LTβR deficiency causes lymph node aplasia and impaired B cell differentiation

    Science Immunology, 2024

    DOI 10.1126/sciimmunol.adq8796 PMID 39576873 13 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  34. Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion

    Journal of clinical immunology, 2024

    DOI 10.1007/s10875-024-01682-0 PMID 38578569 5 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  35. Artemis deficiency: A large cohort including a novel variant with increased radiosensitivity

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2024

    DOI 10.1111/pai.14171 PMID 38860449 6 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  36. Long-term immunological changes after corrective cardiac surgery

    Scandinavian journal of immunology, 2024

    DOI 10.1111/sji.13418 PMID 39474990 4 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  37. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency

    Journal of Allergy and Clinical Immunology, 2024

    DOI 10.1016/j.jaci.2023.12.020 PMID 38185418 20 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  38. Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort

    Journal of Clinical Immunology, 2024

    DOI 10.1007/s10875-024-01771-0 PMID 39098942 11 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  39. Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease

    Journal of Allergy and Clinical Immunology, 2024

    DOI 10.1016/j.jaci.2024.11.032 PMID 39631446 9 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  40. Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

    Journal of Clinical Immunology, 2024

    DOI 10.1007/s10875-024-01791-w PMID 39283523 8 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  41. The association of milk and multiple food avoidance with growth parameters in infants and children

    Annals of Allergy Asthma & Immunology, 2024

    DOI 10.1016/j.anai.2024.02.023 PMID 38447665 11 citations (OpenAlex) Source : OpenAlex

  42. Health Quality and Treatment Satisfaction in IEI Patients; Not Only IgRT but Comorbidities

    Asthma Allergy Immunology, 2024

    DOI 10.21911/aai.2024.621 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  43. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

    Clinical Immunology, 2023

    DOI 10.1016/j.clim.2023.109757 PMID 37689091 10 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

  44. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency

    Journal of Allergy and Clinical Immunology, 2023

    DOI 10.1016/j.jaci.2023.08.004 PMID 37595759 61 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  45. Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1

    Clinical Immunology, 2023

    DOI 10.1016/j.clim.2023.109691 PMID 37433423 8 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  46. 25 A phase 2/3 study evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease)

    Immunobiology, 2023

    DOI 10.1016/j.imbio.2023.152482 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  47. Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis

    Journal of clinical immunology, 2023

    DOI 10.1007/s10875-023-01554-z PMID 37507632 7 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  48. Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

    Blood, 2023

    DOI 10.1182/blood.2022018303 PMID 37249233 15 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  49. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6

    Journal of Allergy and Clinical Immunology, 2023

    DOI 10.1016/j.jaci.2023.01.023 PMID 36758835 69 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  50. The relationships between upper extremity muscle strength and endurance with respiratory function, functional capacity and quality of life in children and adolescents with cystic fibrosis

    International Journal of Therapy and Rehabilitation, 2023

    DOI 10.12968/ijtr.2021.0159 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex