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@ARTICLE{Yakici:1014969,
      author       = {Yakici, Nalan and Kreins, Alexandra Y. and Catak, Mehmet
                      Cihangir and Babayeva, Royala and Erman, Baran and Kenney,
                      Heather and Gungor, Hatice Eke and Cea, Pablo A. and Kawai,
                      Tomoki and Bosticardo, Marita and Delmonte, Ottavia Maria
                      and Adams, Stuart and Fan, Yu-Tong and Pala, Francesca and
                      Turkyilmaz, Ayberk and Howley, Evey and Worth, Austen and
                      Kot, Hakan and Sefer, Asena Pinar and Kara, Altan and
                      Bulutoglu, Alper and Eltan, Sevgi Bilgic and Altunbas, Melek
                      Yorgun and Bayram, Feyza and Karakus, Ibrahim Serhat and
                      Karatay, Emrah and Tekeoglu, Sidem Didar and Eser, Metin and
                      Albayrak, Davut and Citli, Senol and Kiykim, Ayca and
                      Karakoc-Aydiner, Elif and Ozen, Ahmet and Ghosh, Sujal and
                      Gohlke, Holger and Orhan, Fazil and Notarangelo, Luigi D.
                      and Davies, E. Graham and Baris, Safa},
      title        = {{E}xpanding the clinical and immunological phenotypes of
                      {PAX}1-deficient {SCID} and {CID} patients},
      journal      = {Clinical immunology},
      volume       = {255},
      issn         = {1521-6616},
      address      = {Orlando, Fla.},
      publisher    = {Academic Press},
      reportid     = {FZJ-2023-03513},
      pages        = {109757},
      year         = {2023},
      abstract     = {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 naïve 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.},
      cin          = {IBG-4},
      ddc          = {610},
      cid          = {I:(DE-Juel1)IBG-4-20200403},
      pnm          = {5111 - Domain-Specific Simulation $\&$ Data Life Cycle Labs
                      (SDLs) and Research Groups (POF4-511) / 2171 - Biological
                      and environmental resources for sustainable use (POF4-217) /
                      GRK 2158 - GRK 2158: Naturstoffe und Analoga gegen
                      Therapie-resistente Tumoren und Mikroorganismen: Neue
                      Leitstrukturen und Wirkmechanismen (270650915)},
      pid          = {G:(DE-HGF)POF4-5111 / G:(DE-HGF)POF4-2171 /
                      G:(GEPRIS)270650915},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {37689091},
      UT           = {WOS:001165275000001},
      doi          = {10.1016/j.clim.2023.109757},
      url          = {https://juser.fz-juelich.de/record/1014969},
}