1 Ocak 2023 Dergi makalesi Açık Erişim

Yakici, Nalan; Kreins, Alexandra Y.; Catak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Gungor, Hatice Eke; Cea, Pablo A.; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Tong; Pala, Francesca; Turkyilmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pinar; Kara, Altan

Dublin Core

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  <dc:creator>Yakici, Nalan</dc:creator>
  <dc:creator>Kreins, Alexandra Y.</dc:creator>
  <dc:creator>Catak, Mehmet Cihangir</dc:creator>
  <dc:creator>Babayeva, Royala</dc:creator>
  <dc:creator>Erman, Baran</dc:creator>
  <dc:creator>Kenney, Heather</dc:creator>
  <dc:creator>Gungor, Hatice Eke</dc:creator>
  <dc:creator>Cea, Pablo A.</dc:creator>
  <dc:creator>Kawai, Tomoki</dc:creator>
  <dc:creator>Bosticardo, Marita</dc:creator>
  <dc:creator>Delmonte, Ottavia Maria</dc:creator>
  <dc:creator>Adams, Stuart</dc:creator>
  <dc:creator>Fan, Yu-Tong</dc:creator>
  <dc:creator>Pala, Francesca</dc:creator>
  <dc:creator>Turkyilmaz, Ayberk</dc:creator>
  <dc:creator>Howley, Evey</dc:creator>
  <dc:creator>Worth, Austen</dc:creator>
  <dc:creator>Kot, Hakan</dc:creator>
  <dc:creator>Sefer, Asena Pinar</dc:creator>
  <dc:creator>Kara, Altan</dc:creator>
  <dc:date>2023-01-01</dc:date>
  <dc:description>Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naive T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/265012</dc:identifier>
  <dc:identifier>oai:aperta.ulakbim.gov.tr:265012</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>CLINICAL IMMUNOLOGY 255 14</dc:source>
  <dc:title>Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
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