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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{
  "@context": "https://schema.org/", 
  "@id": 235246, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Kolukisa, Burcu"
    }, 
    {
      "@type": "Person", 
      "name": "Baser, Dilek"
    }, 
    {
      "@type": "Person", 
      "name": "Akcam, Bengu"
    }, 
    {
      "@type": "Person", 
      "name": "Danielson, Jeffrey"
    }, 
    {
      "@type": "Person", 
      "name": "Eltan, Sevgi Bilgic"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Erciyes Univ, Dept Med Biol, Sch Med, Kayseri, Turkey", 
      "name": "Haliloglu, Yesim"
    }, 
    {
      "@type": "Person", 
      "name": "Sefer, Asena Pinar"
    }, 
    {
      "@type": "Person", 
      "name": "Babayeva, Royale"
    }, 
    {
      "@type": "Person", 
      "name": "Akgun, Gamze"
    }, 
    {
      "@type": "Person", 
      "name": "Charbonnier, Louis-Marie"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Harvard Med Sch, Boston Childrens Hosp, Div Immunol & Newborn Med, Boston, MA 02115 USA", 
      "name": "Schmitz-Abe, Klaus"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Hlth Sci, Umraniye Teaching & Res Hosp, Genom Lab GLAB, Istanbul, Turkey", 
      "name": "Demirkol, Yasemin Kendir"
    }, 
    {
      "@type": "Person", 
      "name": "Zhang, Yu"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Regeneron Genet Ctr, Tarrytown, NY USA", 
      "name": "Gonzaga-Jauregui, Claudia"
    }, 
    {
      "@type": "Person", 
      "name": "Heredia, Raul Jimenez"
    }, 
    {
      "@type": "Person", 
      "name": "Kasap, Nurhan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ Cerrahpasa, Fac Med Pediat Allergy & Immunol, Istanbul, Turkey", 
      "name": "Kiykim, Ayca"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Istanbul Univ, Istanbul Fac Med Pediat Allergy & Immunol, Istanbul, Turkey", 
      "name": "Yucel, Esra Ozek"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
      "name": "Gok, Veysel"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
      "name": "Unal, Ekrem"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Erciyes Univ, Sch Med Pediat Hematol & Oncol, Kayseri, Turkey", 
      "name": "Unal, Ekrem"
    }
  ], 
  "datePublished": "2022-01-01", 
  "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.", 
  "headline": "Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency", 
  "identifier": 235246, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency", 
  "url": "https://aperta.ulakbim.gov.tr/record/235246"
}