1 Ocak 2024 Dergi makalesi Açık Erişim

Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Goekhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kiykim, Ayca; Karaatmaca, Betul; Kose, Hulya

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    "creators": [
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        "name": "Erman, Baran"
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      {
        "name": "Aba, Umran"
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      {
        "name": "Ipsir, Canberk"
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      {
        "affiliation": "Hacettepe Univ, Can Sucak Res Lab Translat Immunol, Ankara, Turkiye", 
        "name": "Pehlivan, Damla"
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      {
        "affiliation": "SBU Ankara Dr Sami Ulus Matern Child Hlth & Dis Tr, Pediat Immunol, Ankara, Turkiye", 
        "name": "Aytekin, Caner"
      }, 
      {
        "affiliation": "Univ South Australia & SA Pathol, Ctr Canc Biol, Adelaide, SA 5000, Australia", 
        "name": "Cildir, Goekhan"
      }, 
      {
        "affiliation": "Hacettepe Univ, Inst Child Hlth, Ankara, Turkiye", 
        "name": "Cicek, Begum"
      }, 
      {
        "affiliation": "Hacettepe Univ, Can Sucak Res Lab Translat Immunol, Ankara, Turkiye", 
        "name": "Bozkurt, Ceren"
      }, 
      {
        "affiliation": "Hacettepe Univ, Can Sucak Res Lab Translat Immunol, Ankara, Turkiye", 
        "name": "Tekeoglu, Sidem"
      }, 
      {
        "affiliation": "Hacettepe Univ, Can Sucak Res Lab Translat Immunol, Ankara, Turkiye", 
        "name": "Kaya, Melisa"
      }, 
      {
        "affiliation": "Univ Hlth Sci, Istanbul Basaksehir Cam & Sakura City Hosp, Dept Pediat Allergy & Clin Immunol, Istanbul, Turkiye", 
        "name": "Aydogmus, Cigdem"
      }, 
      {
        "affiliation": "Altinbas Univ, Sch Med, Dept Pediat Allergy & Clin Immunol, Istanbul, Turkiye", 
        "name": "Cipe, Funda"
      }, 
      {
        "affiliation": "Med Pk Bahcesehir Hosp, Clin Hematol & Transplantat, Istanbul, Turkiye", 
        "name": "Sucak, Gulsan"
      }, 
      {
        "affiliation": "Marmara Univ, Fac Med,Dept Pediat Allergy & Immunol, Jeffrey Modell Diagnost & Res Ctr Primary Immunode, Isil Berat Barlan Ctr Translat Med, Istanbul, Turkiye", 
        "name": "Eltan, Sevgi Bilgic"
      }, 
      {
        "affiliation": "Marmara Univ, Fac Med,Dept Pediat Allergy & Immunol, Jeffrey Modell Diagnost & Res Ctr Primary Immunode, Isil Berat Barlan Ctr Translat Med, Istanbul, Turkiye", 
        "name": "Ozen, Ahmet"
      }, 
      {
        "affiliation": "Marmara Univ, Fac Med,Dept Pediat Allergy & Immunol, Jeffrey Modell Diagnost & Res Ctr Primary Immunode, Isil Berat Barlan Ctr Translat Med, Istanbul, Turkiye", 
        "name": "Baris, Safa"
      }, 
      {
        "affiliation": "Marmara Univ, Fac Med,Dept Pediat Allergy & Immunol, Jeffrey Modell Diagnost & Res Ctr Primary Immunode, Isil Berat Barlan Ctr Translat Med, Istanbul, Turkiye", 
        "name": "Karakoc-Aydiner, Elif"
      }, 
      {
        "affiliation": "Istanbul Univ Cerrahpasa, Cerrahpasa Sch Med, Pediat Allergy & Immunol, Istanbul, Turkiye", 
        "name": "Kiykim, Ayca"
      }, 
      {
        "affiliation": "Univ Hlth Sci, Ankara Bilkent City Hosp, Dept Pediat Allergy & Immunol, Ankara, Turkiye", 
        "name": "Karaatmaca, Betul"
      }, 
      {
        "affiliation": "Diyarbakir Children Hosp, Dept Pediat Immunol, Diyarbakir, Turkiye", 
        "name": "Kose, Hulya"
      }
    ], 
    "description": "<p>Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients' long-term prognosis, treatment options, and genetic counseling. Over the past decade, the broader utilization of next-generation sequencing (NGS) techniques in both research and clinical settings has facilitated the evaluation of a significant proportion of patients for gene variants associated with IEI. In addition to its role in diagnosing known gene defects, the application of high-throughput techniques such as targeted, exome, and genome sequencing has led to the identification of novel disease-causing genes. However, the results obtained from these different methods can vary depending on disease phenotypes or patient characteristics. In this study, we conducted whole-exome sequencing (WES) in a sizable cohort of IEI patients, consisting of 303 individuals from 21 different clinical immunology centers in T &amp; uuml;rkiye. Our analysis resulted in likely genetic diagnoses for 41.1% of the patients (122 out of 297), revealing 52 novel variants and uncovering potential new IEI genes in six patients. The significance of understanding outcomes across various IEI cohorts cannot be overstated, and we believe that our findings will make a valuable contribution to the existing literature and foster collaborative research between clinicians and basic science researchers.</p>", 
    "doi": "10.1007/s10875-024-01759-w", 
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    "journal": {
      "issue": "7", 
      "pages": "19", 
      "title": "JOURNAL OF CLINICAL IMMUNOLOGY", 
      "volume": "44"
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    "license": {
      "id": "cc-by"
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    "publication_date": "2024-01-01", 
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      "title": "Dergi makalesi", 
      "type": "publication"
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    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "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 T\u00fcrkiye"
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