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

Citation Style Language JSON

{
  "DOI": "10.1016/j.clim.2023.109757", 
  "abstract": "<p>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.</p>", 
  "author": [
    {
      "family": "Yakici", 
      "given": " Nalan"
    }, 
    {
      "family": "Kreins", 
      "given": " Alexandra Y."
    }, 
    {
      "family": "Catak", 
      "given": " Mehmet Cihangir"
    }, 
    {
      "family": "Babayeva", 
      "given": " Royala"
    }, 
    {
      "family": "Erman", 
      "given": " Baran"
    }, 
    {
      "family": "Kenney", 
      "given": " Heather"
    }, 
    {
      "family": "Gungor", 
      "given": " Hatice Eke"
    }, 
    {
      "family": "Cea", 
      "given": " Pablo A."
    }, 
    {
      "family": "Kawai", 
      "given": " Tomoki"
    }, 
    {
      "family": "Bosticardo", 
      "given": " Marita"
    }, 
    {
      "family": "Delmonte", 
      "given": " Ottavia Maria"
    }, 
    {
      "family": "Adams", 
      "given": " Stuart"
    }, 
    {
      "family": "Fan", 
      "given": " Yu-Tong"
    }, 
    {
      "family": "Pala", 
      "given": " Francesca"
    }, 
    {
      "family": "Turkyilmaz", 
      "given": " Ayberk"
    }, 
    {
      "family": "Howley", 
      "given": " Evey"
    }, 
    {
      "family": "Worth", 
      "given": " Austen"
    }, 
    {
      "family": "Kot", 
      "given": " Hakan"
    }, 
    {
      "family": "Sefer", 
      "given": " Asena Pinar"
    }, 
    {
      "family": "Kara", 
      "given": " Altan"
    }
  ], 
  "container_title": "CLINICAL IMMUNOLOGY", 
  "id": "265012", 
  "issued": {
    "date-parts": [
      [
        2023, 
        1, 
        1
      ]
    ]
  }, 
  "page": "14", 
  "title": "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients", 
  "type": "article-journal", 
  "volume": "255"
}