1 Ocak 2021 Dergi makalesi Açık Erişim

Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Muller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Moens, Leen

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    "communities": [
      {
        "id": "tubitak-destekli-proje-yayinlari"
      }
    ], 
    "creators": [
      {
        "affiliation": "King Hussein Canc Ctr KHCC, Dept Pediat, Div Pediat Hematol & Oncol, Bone Marrow Transplant Unit, POB 1269, Amman 11941, Jordan", 
        "name": "Hashem, Hasan"
      }, 
      {
        "name": "Bucciol, Giorgia"
      }, 
      {
        "name": "Ozen, Seza"
      }, 
      {
        "affiliation": "Hacettepe Univ, Res Ctr Fanconi Anemia & Other Inherited Bone Mar, Dept Pediat Hematol, Ankara, Turkey", 
        "name": "Unal, Sule"
      }, 
      {
        "affiliation": "Univ Hlth Sci, Ankara City Hosp, Div Pediat Hematol & Oncol, Bone Marrow Transplant Unit, Ankara, Turkey", 
        "name": "Bozkaya, Ikbal Ok"
      }, 
      {
        "affiliation": "Hacettepe Univ, Dept Med Genet, TR-06100 Ankara, Turkey", 
        "name": "Akarsu, Nurten"
      }, 
      {
        "affiliation": "Helsinki Univ Hosp, Div Pediat Hematol Oncol & Stem Cell Transplantat, Helsinki, Finland", 
        "name": "Taskinen, Mervi"
      }, 
      {
        "affiliation": "Helsinki Univ Hosp, Children & Adolescents, Pediat Hematol Oncol & Stem Cell Transplantat, Helsinki, Finland", 
        "name": "Koskenvuo, Minna"
      }, 
      {
        "name": "Saarela, Janna"
      }, 
      {
        "affiliation": "NCI, Expt Transplantat & Immunotherapy Branch, NIH, Bethesda, MD 20892 USA", 
        "name": "Dimitrova, Dimana"
      }, 
      {
        "affiliation": "NCI, Immune Deficiency Cellular Therapy Program, CCR, Bethesda, MD 20892 USA", 
        "name": "Hickstein, Dennis D."
      }, 
      {
        "affiliation": "NIAID, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA", 
        "name": "Hsu, Amy P."
      }, 
      {
        "affiliation": "NIAID, Lab Clin Infect Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA", 
        "name": "Holland, Steven M."
      }, 
      {
        "affiliation": "Baylor Coll Med, Cell & Gene Therapy, Houston, TX 77030 USA", 
        "name": "Krance, Robert"
      }, 
      {
        "affiliation": "Baylor Coll Med, Cell & Gene Therapy, Houston, TX 77030 USA", 
        "name": "Sasa, Ghadir"
      }, 
      {
        "name": "Kumar, Ashish R."
      }, 
      {
        "affiliation": "Univ Med Ctr Hamburg Eppendorf, Div Pediat Stem Cell Transplantat & Immunol, Hamburg, Germany", 
        "name": "Muller, Ingo"
      }, 
      {
        "affiliation": "Univ Med Ctr Hamburg Eppendorf, Div Pediat Stem Cell Transplantat & Immunol, Hamburg, Germany", 
        "name": "de Sousa, Monica Abreu"
      }, 
      {
        "name": "Delafontaine, Selket"
      }, 
      {
        "affiliation": "Univ Hosp Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Herestr 49, B-3000 Leuven, Belgium", 
        "name": "Moens, Leen"
      }, 
      {
        "affiliation": "Univ Hosp Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Herestr 49, B-3000 Leuven, Belgium", 
        "name": "Moens, Leen"
      }
    ], 
    "description": "Purpose Deficiency of adenosine deaminase 2 (DADA2) is an inherited inborn error of immunity, characterized by autoinflammation (recurrent fever), vasculopathy (livedo racemosa, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency, lymphoproliferation, immune cytopenias, and bone marrow failure (BMF). Tumor necrosis factor (TNF-alpha) blockade is the treatment of choice for the vasculopathy, but often fails to reverse refractory cytopenia. We aimed to study the outcome of hematopoietic cell transplantation (HCT) in patients with DADA2. Methods We conducted a retrospective study on the outcome of HCT in patients with DADA2. The primary outcome was overall survival (OS). Results Thirty DADA2 patients from 12 countries received a total of 38 HCTs. The indications for HCT were BMF, immune cytopenia, malignancy, or immunodeficiency. Median age at HCT was 9 years (range: 2-28 years). The conditioning regimens for the final transplants were myeloablative (n = 20), reduced intensity (n = 8), or non-myeloablative (n = 2). Donors were HLA-matched related (n = 4), HLA-matched unrelated (n = 16), HLA-haploidentical (n = 2), or HLA-mismatched unrelated (n = 8). After a median follow-up of 2 years (range: 0.5-16 years), 2-year OS was 97%, and 2-year GvHD-free relapse-free survival was 73%. The hematological and immunological phenotypes resolved, and there were no new vascular events. Plasma ADA2 enzyme activity normalized in 16/17 patients tested. Six patients required more than one HCT. Conclusion HCT was an effective treatment for DADA2, successfully reversing the refractory cytopenia, as well as the vasculopathy and immunodeficiency. Clinical Implications HCT is a definitive cure for DADA2 with > 95% survival.", 
    "doi": "10.1007/s10875-021-01098-0", 
    "has_grant": false, 
    "journal": {
      "issue": "7", 
      "pages": "1633-1647", 
      "title": "JOURNAL OF CLINICAL IMMUNOLOGY", 
      "volume": "41"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2021-01-01", 
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients"
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