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

Dublin Core

<?xml version='1.0' encoding='utf-8'?>
<oai_dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:oai_dc="http://www.openarchives.org/OAI/2.0/oai_dc/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd">
  <dc:creator>Kolukisa, Burcu</dc:creator>
  <dc:creator>Baser, Dilek</dc:creator>
  <dc:creator>Akcam, Bengu</dc:creator>
  <dc:creator>Danielson, Jeffrey</dc:creator>
  <dc:creator>Eltan, Sevgi Bilgic</dc:creator>
  <dc:creator>Haliloglu, Yesim</dc:creator>
  <dc:creator>Sefer, Asena Pinar</dc:creator>
  <dc:creator>Babayeva, Royale</dc:creator>
  <dc:creator>Akgun, Gamze</dc:creator>
  <dc:creator>Charbonnier, Louis-Marie</dc:creator>
  <dc:creator>Schmitz-Abe, Klaus</dc:creator>
  <dc:creator>Demirkol, Yasemin Kendir</dc:creator>
  <dc:creator>Zhang, Yu</dc:creator>
  <dc:creator>Gonzaga-Jauregui, Claudia</dc:creator>
  <dc:creator>Heredia, Raul Jimenez</dc:creator>
  <dc:creator>Kasap, Nurhan</dc:creator>
  <dc:creator>Kiykim, Ayca</dc:creator>
  <dc:creator>Yucel, Esra Ozek</dc:creator>
  <dc:creator>Gok, Veysel</dc:creator>
  <dc:creator>Unal, Ekrem</dc:creator>
  <dc:creator>Unal, Ekrem</dc:creator>
  <dc:date>2022-01-01</dc:date>
  <dc: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.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/235246</dc:identifier>
  <dc:identifier>oai:aperta.ulakbim.gov.tr:235246</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>ALLERGY 77(3) 1004-1019</dc:source>
  <dc:title>Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
</oai_dc:dc>