Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S.
Yakici N, et al.
Clin Immunol. 2023 Oct;255:109757. doi: 10.1016/j.clim.2023.109757. Epub 2023 Sep 9.
Clin Immunol. 2023.
PMID: 37689091
Free PMC article.
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 def …
Normal ex vivo differentiation of PAX1-deficient CD34(+) cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsi …