1 Ocak 2022 Dergi makalesi Açık Erişim

Kolukisa, Burcu; Baser, Dilek; Akcam, Bengu; Danielson, Jeffrey; Eltan, Sevgi Bilgic; Haliloglu, Yesim; Sefer, Asena Pinar; Babayeva, Royale; Akgun, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Demirkol, Yasemin Kendir; Zhang, Yu; Gonzaga-Jauregui, Claudia; Heredia, Raul Jimenez; Kasap, Nurhan; Kiykim, Ayca; Yucel, Esra Ozek; Gok, Veysel; Unal, Ekrem; Unal, Ekrem

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  "conceptrecid": "235245", 
  "created": "2022-10-07T09:16:27.115263+00:00", 
  "doi": "10.1111/all.15010", 
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    "doi": "https://doi.org/10.1111/all.15010", 
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  "metadata": {
    "access_right": "open", 
    "access_right_category": "success", 
    "communities": [
      {
        "id": "tubitak-destekli-proje-yayinlari"
      }
    ], 
    "creators": [
      {
        "name": "Kolukisa, Burcu"
      }, 
      {
        "name": "Baser, Dilek"
      }, 
      {
        "name": "Akcam, Bengu"
      }, 
      {
        "name": "Danielson, Jeffrey"
      }, 
      {
        "name": "Eltan, Sevgi Bilgic"
      }, 
      {
        "affiliation": "Erciyes Univ, Dept Med Biol, Sch Med, Kayseri, Turkey", 
        "name": "Haliloglu, Yesim"
      }, 
      {
        "name": "Sefer, Asena Pinar"
      }, 
      {
        "name": "Babayeva, Royale"
      }, 
      {
        "name": "Akgun, Gamze"
      }, 
      {
        "name": "Charbonnier, Louis-Marie"
      }, 
      {
        "affiliation": "Harvard Med Sch, Boston Childrens Hosp, Div Immunol & Newborn Med, Boston, MA 02115 USA", 
        "name": "Schmitz-Abe, Klaus"
      }, 
      {
        "affiliation": "Univ Hlth Sci, Umraniye Teaching & Res Hosp, Genom Lab GLAB, Istanbul, Turkey", 
        "name": "Demirkol, Yasemin Kendir"
      }, 
      {
        "name": "Zhang, Yu"
      }, 
      {
        "affiliation": "Regeneron Genet Ctr, Tarrytown, NY USA", 
        "name": "Gonzaga-Jauregui, Claudia"
      }, 
      {
        "name": "Heredia, Raul Jimenez"
      }, 
      {
        "name": "Kasap, Nurhan"
      }, 
      {
        "affiliation": "Istanbul Univ Cerrahpasa, Fac Med Pediat Allergy & Immunol, Istanbul, Turkey", 
        "name": "Kiykim, Ayca"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med Pediat Allergy & Immunol, Istanbul, Turkey", 
        "name": "Yucel, Esra Ozek"
      }, 
      {
        "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
        "name": "Gok, Veysel"
      }, 
      {
        "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
        "name": "Unal, Ekrem"
      }, 
      {
        "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
        "name": "Unal, Ekrem"
      }
    ], 
    "description": "Background Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations. Methods The presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases. Lymphocyte subpopulations, protein expression, regulatory T (Treg), and circulating T follicular helper (cT(FH)) cells were analyzed. Three-dimensional (3D) migration assay was performed to determine T-cell shape. Results Mean age at disease onset was 38 +/- 23 months. Main clinical features were skin manifestations (n = 14, 93%), failure to thrive (n = 10, 67%), recurrent infections (n = 10, 67%), allergic symptoms (n = 8, 53%), chronic diarrhea (n = 4, 27%), and EBV-related leiomyoma (n = 2, 13%). Skin manifestations ranged from atopic and seborrheic dermatitis to psoriasiform rash. Patients had reduced proportions of memory CD4(+) T cells, Treg, and cT(FH) cells. Memory B and NK cells were also decreased. CARMIL2-deficient T cells exhibited reduced T-cell proliferation and cytokine production following CD28 co-stimulation and normal morphology when migrating in a high-density 3D collagen gel matrix. IBD was the most severe clinical manifestation, leading to growth retardation, requiring multiple interventional treatments. All patients were alive with a median follow-up of 10.8 years (range: 3-17 years). Conclusion This cohort provides clinical and immunological features and long-term follow-up of different manifestations of CARMIL2 deficiency.", 
    "doi": "10.1111/all.15010", 
    "has_grant": false, 
    "journal": {
      "issue": "3", 
      "pages": "1004-1019", 
      "title": "ALLERGY", 
      "volume": "77"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2022-01-01", 
    "relations": {
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    }, 
    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency"
  }, 
  "owners": [
    1
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  "revision": 1, 
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  "updated": "2022-10-07T09:16:27.162779+00:00"
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