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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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/235246</identifier>
  <creators>
    <creator>
      <creatorName>Kolukisa, Burcu</creatorName>
      <givenName>Burcu</givenName>
      <familyName>Kolukisa</familyName>
    </creator>
    <creator>
      <creatorName>Baser, Dilek</creatorName>
      <givenName>Dilek</givenName>
      <familyName>Baser</familyName>
    </creator>
    <creator>
      <creatorName>Akcam, Bengu</creatorName>
      <givenName>Bengu</givenName>
      <familyName>Akcam</familyName>
    </creator>
    <creator>
      <creatorName>Danielson, Jeffrey</creatorName>
      <givenName>Jeffrey</givenName>
      <familyName>Danielson</familyName>
    </creator>
    <creator>
      <creatorName>Eltan, Sevgi Bilgic</creatorName>
      <givenName>Sevgi Bilgic</givenName>
      <familyName>Eltan</familyName>
    </creator>
    <creator>
      <creatorName>Haliloglu, Yesim</creatorName>
      <givenName>Yesim</givenName>
      <familyName>Haliloglu</familyName>
      <affiliation>Erciyes Univ, Dept Med Biol, Sch Med, Kayseri, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Sefer, Asena Pinar</creatorName>
      <givenName>Asena Pinar</givenName>
      <familyName>Sefer</familyName>
    </creator>
    <creator>
      <creatorName>Babayeva, Royale</creatorName>
      <givenName>Royale</givenName>
      <familyName>Babayeva</familyName>
    </creator>
    <creator>
      <creatorName>Akgun, Gamze</creatorName>
      <givenName>Gamze</givenName>
      <familyName>Akgun</familyName>
    </creator>
    <creator>
      <creatorName>Charbonnier, Louis-Marie</creatorName>
      <givenName>Louis-Marie</givenName>
      <familyName>Charbonnier</familyName>
    </creator>
    <creator>
      <creatorName>Schmitz-Abe, Klaus</creatorName>
      <givenName>Klaus</givenName>
      <familyName>Schmitz-Abe</familyName>
      <affiliation>Harvard Med Sch, Boston Childrens Hosp, Div Immunol &amp; Newborn Med, Boston, MA 02115 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Demirkol, Yasemin Kendir</creatorName>
      <givenName>Yasemin Kendir</givenName>
      <familyName>Demirkol</familyName>
      <affiliation>Univ Hlth Sci, Umraniye Teaching &amp; Res Hosp, Genom Lab GLAB, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Zhang, Yu</creatorName>
      <givenName>Yu</givenName>
      <familyName>Zhang</familyName>
    </creator>
    <creator>
      <creatorName>Gonzaga-Jauregui, Claudia</creatorName>
      <givenName>Claudia</givenName>
      <familyName>Gonzaga-Jauregui</familyName>
      <affiliation>Regeneron Genet Ctr, Tarrytown, NY USA</affiliation>
    </creator>
    <creator>
      <creatorName>Heredia, Raul Jimenez</creatorName>
      <givenName>Raul Jimenez</givenName>
      <familyName>Heredia</familyName>
    </creator>
    <creator>
      <creatorName>Kasap, Nurhan</creatorName>
      <givenName>Nurhan</givenName>
      <familyName>Kasap</familyName>
    </creator>
    <creator>
      <creatorName>Kiykim, Ayca</creatorName>
      <givenName>Ayca</givenName>
      <familyName>Kiykim</familyName>
      <affiliation>Istanbul Univ Cerrahpasa, Fac Med Pediat Allergy &amp; Immunol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yucel, Esra Ozek</creatorName>
      <givenName>Esra Ozek</givenName>
      <familyName>Yucel</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med Pediat Allergy &amp; Immunol, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gok, Veysel</creatorName>
      <givenName>Veysel</givenName>
      <familyName>Gok</familyName>
      <affiliation>Erciyes Univ, Sch Med Pediat Hematol &amp; Oncol, Kayseri, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Unal, Ekrem</creatorName>
      <givenName>Ekrem</givenName>
      <familyName>Unal</familyName>
      <affiliation>Erciyes Univ, Sch Med Pediat Hematol &amp; Oncol, Kayseri, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Unal, Ekrem</creatorName>
      <givenName>Ekrem</givenName>
      <familyName>Unal</familyName>
      <affiliation>Erciyes Univ, Sch Med Pediat Hematol &amp; Oncol, Kayseri, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Evolution And Long-Term Outcomes Of Combined Immunodeficiency Due To Carmil2 Deficiency</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2022</publicationYear>
  <dates>
    <date dateType="Issued">2022-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/235246</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1111/all.15010</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">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.</description>
  </descriptions>
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