Nalan Yakici, Alexandra Y Kreins, Mehmet Cihangir Catak, Royala Babayeva, Baran Erman, Heather Kenney, Hatice Eke Gungor, Pablo A Cea, Tomoki Kawai, Marita Bosticardo, Ottavia Maria Delmonte, Stuart Adams, Yu-Tong Fan, Francesca Pala, Ayberk Turkyilmaz, Evey Howley, Austen Worth, Hakan Kot, Asena Pinar Sefer, Altan Kara, Alper Bulutoglu, Sevgi Bilgic Eltan, Melek Yorgun Altunbas, Feyza Bayram, Ibrahim Serhat Karakus, Emrah Karatay, Sidem Didar Tekeoglu, Metin Eser, Davut Albayrak, Senol Citli, Ayca Kiykim, Elif Karakoc-Aydiner, Ahmet Ozen, Sujal Ghosh, Holger Gohlke, Fazil Orhan, Luigi D Notarangelo, E Graham Davies, Safa Baris
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...
September 7, 2023: Clinical Immunology: the Official Journal of the Clinical Immunology Society