Travaux scientifiques

Prof. Dr. Ferah Genel

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

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  1. Clinical, Immunological Findings, and Outcomes of Children with Ataxia-Telangiectasia: A Single Center Experience

    Pediatric Allergy Immunology and Pulmonology, 2026

    DOI 10.1177/2151321x261463062 PMID 42308133 Source : OpenAlex

  2. Pediatric DOCK8 Deficiency Beyond Infections and Atopy: An Immunoactinopathy with Immune Dysregulation and Multisystem Involvement

    Children, 2026

    DOI 10.3390/children13091226 PMID 42794246 Texte intégral en libre accèsSource : OpenAlex

  3. B cells, autoimmunity, and innate immunity in 22q11.2 deletion syndrome: a two-center study and review of the literature

    Central European Journal of Immunology, 2026

    DOI 10.5114/ceji/208683 PMID 42677014 Texte intégral en libre accèsSource : OpenAlex

  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. Tuberculosis in Children With Primary Immunodeficiencies: A 13-Year Retrospective Experience

    Pediatric pulmonology, 2026

    DOI 10.1002/ppul.71457 PMID 41521825 Texte intégral en libre accèsSource : Europe PMC

  6. Beyond Infections: Clinical and Genetic Spectrum of Pediatric Immune Dysregulation Disorders

    The Journal of Pediatric Research, 2026

    DOI 10.4274/jpr.galenos.2026.29599 Texte intégral en libre accèsSource : OpenAlex

  7. Diagnostic utility of targeted flow cytometry in genetically confirmed inborn errors of immunity: a 20-year single-center experience

    Frontiers in Immunology, 2026

    DOI 10.3389/fimmu.2026.1940152 PMID 42851642 Texte intégral en libre accèsSource : OpenAlex

  8. 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

  9. 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

  10. 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

  11. Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry

    Frontiers in Genetics, 2025

    DOI 10.3389/fgene.2025.1584681 PMID 40860338 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  12. Evaluation of Immune Functions in Transfusion-Dependent Thalassemia Patients with Alloimmunization

    Turkish journal of haematology : official journal of Turkish Society of Haematology, 2025

    DOI 10.4274/tjh.galenos.2025.2025.0106 PMID 40824232 1 citation (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  13. A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28

    Molecular Syndromology, 2025

    DOI 10.1159/000549375 PMID 41404552 Texte intégral en libre accèsSource : OpenAlex

  14. 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

  15. Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

    Immunologic Research, 2024

    DOI 10.1007/s12026-024-09477-6 PMID 38644452 7 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  16. Extended Phenotype of VPS45 Defect with Additional Features of Combined Immunodeficiency and Neuromotor Developmental Delay Along with Severe Congenital Neutropenia

    Asthma Allergy Immunology, 2024

    DOI 10.21911/aai.2024.617 3 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  17. Clinical, Molecular, Immunological Properties and Our Clinical Experiences in Patients Diagnosed with X-linked Agamaglobulinemia

    Journal of Dr Behcet Uz Children s Hospital, 2023

    DOI 10.4274/jbuch.galenos.2023.78545 2 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  18. The effect of subcutaneous immunoglobulin replacement therapy on serum IgG levels in patients with primary immunodeficiency

    Trends in Pediatrics, 2023

    DOI 10.59213/tp.2023.32548 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  19. Symptoms, clinical profile and management of pediatric hereditary angioedema: A single-centre experience

    Trends in Pediatrics, 2023

    DOI 10.59213/tp.2023.09815 Texte intégral en libre accèsSource : OpenAlex

  20. Distinguishing Clinical and Immunological Features of Combined Immune Deficiency due to Serine/Threonine Kinase 4 deficiency

    Research Square, 2023

    DOI 10.21203/rs.3.rs-2805048/v1 Texte intégral en libre accèsSource : ORCID

  21. Nijmegen Breakage Syndrome in Fraternal Twins and Synchronous Development of Non-Hodgkin’s Lymphoma

    DergiPark (Istanbul University), 2023

    Texte intégral en libre accèsSource : OpenAlex

  22. 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

  23. 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

  24. 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

  25. CD4+CD25+CD127loFOXP3+ cell in food allergy: Does it predict anaphylaxis?

    Allergologia et Immunopathologia, 2023

    DOI 10.15586/aei.v51i3.797 PMID 37169554 6 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  26. Successful Management of Delayed-Onset Adenosine Deaminase Deficiency with Novel Mutation

    Personalized Medicine, 2023

    DOI 10.2217/pme-2023-0111 PMID 38088159 Source : OpenAlex

  27. Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants

    Scandinavian Journal of Immunology, 2022

    DOI 10.1111/sji.13163 PMID 35303369 6 citations (Europe PMC) Source : OpenAlex

  28. Prevalence of Viruses in Acute Asthma Exacerbations in Childhood in a Hospital in West Part of Turkey

    Iranian Journal of Allergy Asthma and Immunology, 2022

    DOI 10.18502/ijaai.v21i2.9219 PMID 35490265 2 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  29. Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency

    Allergy, 2022

    DOI 10.1111/all.15331 PMID 35491430 26 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  30. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity

    The Journal of Allergy and Clinical Immunology In Practice, 2022

    DOI 10.1016/j.jaip.2022.10.003 PMID 36265766 63 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  31. Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

    The Journal of experimental medicine, 2022

    DOI 10.1084/jem.20220094 PMID 36094518 65 citations (Europe PMC) Texte intégral en libre accèsSource : Europe PMC

  32. Evaluation of children diagnosed with a lower respiratory tract infection due to Human metapneumovirus

    The Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2020.399 PMID 35899557 4 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  33. 22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management

    Allergologia et Immunopathologia, 2021

    DOI 10.15586/aei.v49i1.24 PMID 33528935 4 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  34. Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

    Journal of Clinical Immunology, 2021

    DOI 10.1007/s10875-021-01053-z PMID 34052995 70 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

  35. COVID19 pandemisinin primer immün yetmezlik tanılı hastalar üzerinde etkisi

    Bursa Uludag University - AVESIS, 2021

    Source : OpenAlex

  36. Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature

    Asian Pacific Journal of Allergy and Immunology, 2021

    DOI 10.12932/ap-271219-0726 PMID 33638623 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  37. Otoimmün Lenfoproliferatif Sendrom ve Malignite Riski (FAS, FASL, Kaspaz 8, Kaspaz 10, FADD Eksiklikleri)

    2021

    Source : OpenAlex

  38. Evaluation of the Clinical and Laboratory Findings of Patients with Chromosome 22q11.2 Deletion Syndrome

    Turkiye Klinikleri Journal of Pediatrics, 2021

    DOI 10.5336/pediatr.2021-81283 Texte intégral en libre accèsSource : OpenAlex

  39. Autoimmune and inflammatory manifestations in pediatric patients with primary immunodeficiencies and their importance as a warning sign

    Allergologia et Immunopathologia, 2020

    DOI 10.1016/j.aller.2020.02.009 PMID 32446782 7 citations (Europe PMC) Source : OpenAlex

  40. Primer İmmün Yetmezliklerde İmmünoglobulin Replasman Tedavisi: Güncel Durum Raporu 2019

    Bursa Uludag University - AVESIS, 2020

    Source : OpenAlex

  41. immün disregülasyonhastalık modeli olan lrba ve ctla4 eksikliği olgularında soluble cd25 ve foliküler t hücrelerin hastalık aktivitesini göstermedeki rolü

    Bursa Uludag University - AVESIS, 2020

    Source : OpenAlex

  42. LRBA VE CTLA4EKSİKLİKLERİNİN TANISINDA VE AYIRIMDA AKIM SİTOMETRİNİN YERİ

    Bursa Uludag University - AVESIS, 2020

    Source : OpenAlex

  43. LBRA ve CTLA-4 Eksikliklerinin Tanısında ve Ayrımında Flow Sitometrinin Yeri

    Bursa Uludag University - AVESIS, 2020

    Source : OpenAlex

  44. diagnostic modalities based on flow cytometry for lrba and ctla4 deficiencies; a multicenter study

    Bursa Uludag University - AVESIS, 2020

    Source : OpenAlex

  45. Children with chronic-refractory autoimmune cytopenias: a single center experience

    The Turkish Journal of Pediatrics, 2020

    DOI 10.24953/turkjped.2020.04.001 PMID 32779404 1 citation (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  46. Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene

    The Turkish Journal of Pediatrics, 2020

    DOI 10.24953/turkjped.2020.04.016 PMID 32779419 12 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  47. Adverse reactions and influencing factors in children with primary immunodeficiencies receiving intravenous immunglobulin replacement

    Allergologia et Immunopathologia, 2020

    DOI 10.1016/j.aller.2020.05.008 PMID 32703652 9 citations (OpenAlex) Source : OpenAlex

  48. Do microdeletions lead to immune deficiency?

    Central European Journal of Immunology, 2020

    DOI 10.5114/ceji.2020.94671 PMID 32425682 5 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

  49. Influenza-related hospitalizations due to acute lower respiratory tract infections in a tertiary care children’s hospital in Turkey

    Journal of Clinical Virology, 2020

    DOI 10.1016/j.jcv.2020.104355 PMID 32464308 7 citations (OpenAlex) Source : OpenAlex

  50. Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever.

    PubMed, 2020

    DOI 10.22034/iji.2020.85774.1725 PMID 32602471 1 citation (OpenAlex) Source : OpenAlex