%0 Journal Article
%A Yakici, Nalan
%A Kreins, Alexandra Y.
%A Catak, Mehmet Cihangir
%A Babayeva, Royala
%A Erman, Baran
%A Kenney, Heather
%A Gungor, Hatice Eke
%A Cea, Pablo A.
%A Kawai, Tomoki
%A Bosticardo, Marita
%A Delmonte, Ottavia Maria
%A Adams, Stuart
%A Fan, Yu-Tong
%A Pala, Francesca
%A Turkyilmaz, Ayberk
%A Howley, Evey
%A Worth, Austen
%A Kot, Hakan
%A Sefer, Asena Pinar
%A Kara, Altan
%A Bulutoglu, Alper
%A Eltan, Sevgi Bilgic
%A Altunbas, Melek Yorgun
%A Bayram, Feyza
%A Karakus, Ibrahim Serhat
%A Karatay, Emrah
%A Tekeoglu, Sidem Didar
%A Eser, Metin
%A Albayrak, Davut
%A Citli, Senol
%A Kiykim, Ayca
%A Karakoc-Aydiner, Elif
%A Ozen, Ahmet
%A Ghosh, Sujal
%A Gohlke, Holger
%A Orhan, Fazil
%A Notarangelo, Luigi D.
%A Davies, E. Graham
%A Baris, Safa
%T Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
%J Clinical immunology
%V 255
%@ 1521-6616
%C Orlando, Fla.
%I Academic Press
%M FZJ-2023-03513
%P 109757
%D 2023
%X 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.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ 37689091
%U <Go to ISI:>//WOS:001165275000001
%R 10.1016/j.clim.2023.109757
%U https://juser.fz-juelich.de/record/1014969