PAX1 is essential for development and function of the human thymus
Yasuhiro Yamazaki, Raúl Urrutia, Luis M. Franco, Silvia Giliani, Kejian Zhang, Anas M. Alazami, Kerry Dobbs, Stefania Masneri, Avni Y. Joshi, Francisco Otaizo‐Carrasquero, Timothy G. Myers, Sundar Ganesan, Maria Pia Bondioni, Mai‐Lan Ho, Catherine Marks, Huda Alajlan, Reem Mohammed, Fanggeng Zou, C. Alexander Valencia, Alexandra H. Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander Al-Saud, Hamoud Al‐Mousa, Jean‐Laurent Casanova, Roshini S. Abraham, Luigi D. Notarangelo
Abstract
PAX1 deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues.
Topics & Concepts
Function (biology)BiologyImmunologyCell biologyComputational biologyDigestive system and related healthCongenital heart defects researchGenetic factors in colorectal cancer