TY  - JOUR
AU  - Yakici, Nalan
AU  - Kreins, Alexandra Y.
AU  - Catak, Mehmet Cihangir
AU  - Babayeva, Royala
AU  - Erman, Baran
AU  - Kenney, Heather
AU  - Gungor, Hatice Eke
AU  - Cea, Pablo A.
AU  - Kawai, Tomoki
AU  - Bosticardo, Marita
AU  - Delmonte, Ottavia Maria
AU  - Adams, Stuart
AU  - Fan, Yu-Tong
AU  - Pala, Francesca
AU  - Turkyilmaz, Ayberk
AU  - Howley, Evey
AU  - Worth, Austen
AU  - Kot, Hakan
AU  - Sefer, Asena Pinar
AU  - Kara, Altan
AU  - Bulutoglu, Alper
AU  - Eltan, Sevgi Bilgic
AU  - Altunbas, Melek Yorgun
AU  - Bayram, Feyza
AU  - Karakus, Ibrahim Serhat
AU  - Karatay, Emrah
AU  - Tekeoglu, Sidem Didar
AU  - Eser, Metin
AU  - Albayrak, Davut
AU  - Citli, Senol
AU  - Kiykim, Ayca
AU  - Karakoc-Aydiner, Elif
AU  - Ozen, Ahmet
AU  - Ghosh, Sujal
AU  - Gohlke, Holger
AU  - Orhan, Fazil
AU  - Notarangelo, Luigi D.
AU  - Davies, E. Graham
AU  - Baris, Safa
TI  - Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
JO  - Clinical immunology
VL  - 255
SN  - 1521-6616
CY  - Orlando, Fla.
PB  - Academic Press
M1  - FZJ-2023-03513
SP  - 109757
PY  - 2023
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - 37689091
UR  - <Go to ISI:>//WOS:001165275000001
DO  - DOI:10.1016/j.clim.2023.109757
UR  - https://juser.fz-juelich.de/record/1014969
ER  -