PAX1 is essential for development and function of the human thymus

作者：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 · 发表于：Science Immunology · 年份：2020 · DOI：10.1126/sciimmunol.aax1036 · 被引用次数：98 · 研究领域：Digestive system and related health、Congenital heart defects research、Genetic factors in colorectal cancer

PAX1 deficiency causes a syndromic form of SCID by altering differentiation of thymic epithelial cells and other pharyngeal pouch tissues.