1 Ocak 2023 Dergi makalesi Açık Erişim

Yakici, Nalan; Kreins, Alexandra Y.; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Gungor, Hatice Eke; Cea, Pablo A.; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan

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    "creators": [
      {
        "affiliation": "Karadeniz Tech Univ, Fac Med, Dept Pediat, Div Pediat Allergy & Immunol, Trabzon, Turkiye", 
        "name": "Yakici, Nalan"
      }, 
      {
        "name": "Kreins, Alexandra Y."
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      {
        "name": "Catak, Mehmet Cihangir"
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      {
        "name": "Babayeva, Royala"
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      {
        "name": "Erman, Baran"
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      {
        "affiliation": "Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA", 
        "name": "Kenney, Heather"
      }, 
      {
        "affiliation": "Erciyes City Hosp, Div Pediat Allergy & Immunol, Kayseri, Turkiye", 
        "name": "Gungor, Hatice Eke"
      }, 
      {
        "affiliation": "Heinrich Heine Univ, Inst Pharmaceut & Med Chem, Dusseldorf, Germany", 
        "name": "Cea, Pablo A."
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      {
        "affiliation": "Shizuoka Childrens Hosp, Dept Allergy & Clin Immunol, Shizuoka, Japan", 
        "name": "Kawai, Tomoki"
      }, 
      {
        "affiliation": "Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA", 
        "name": "Bosticardo, Marita"
      }, 
      {
        "affiliation": "Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA", 
        "name": "Delmonte, Ottavia Maria"
      }, 
      {
        "affiliation": "Great Ormond St Hosp Children NHS Fdn Trust, SIHMDS Haematol, London, England", 
        "name": "Adams, Stuart"
      }, 
      {
        "affiliation": "UCL, Great Ormond St Inst Child Hlth, Infect Immun & Inflammat Res & Teaching Dept, London, England", 
        "name": "Fan, Yu-Tong"
      }, 
      {
        "affiliation": "Natl Inst Allergy & Infect Dis NIAID, Immune Deficiency Genet Sect, Lab Clin Immunol & Microbiol LCIM, NIH, Bethesda, MD USA", 
        "name": "Pala, Francesca"
      }, 
      {
        "affiliation": "Karadeniz Tech Univ, Fac Med, Dept Med Genet, Trabzon, Turkiye", 
        "name": "Turkyilmaz, Ayberk"
      }, 
      {
        "affiliation": "Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol & Gene therapy, London, England", 
        "name": "Howley, Evey"
      }, 
      {
        "affiliation": "Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol & Gene therapy, London, England", 
        "name": "Worth, Austen"
      }, 
      {
        "name": "Kot, Hakan"
      }, 
      {
        "name": "Sefer, Asena Pinar"
      }, 
      {
        "affiliation": "Gene Engn & Biotechnol Inst, TUBITAK Marmara Res Ctr, Gebze, Turkiye", 
        "name": "Kara, Altan"
      }
    ], 
    "description": "<p>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 patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naive T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment.</p>", 
    "doi": "10.1016/j.clim.2023.109757", 
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    "journal": {
      "pages": "14", 
      "title": "CLINICAL IMMUNOLOGY", 
      "volume": "255"
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    "publication_date": "2023-01-01", 
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      "title": "Dergi makalesi", 
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    "science_branches": [
      "Di\u011fer"
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    "title": "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients"
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