131. Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
作者: Divya Punwani.;Yong Zhang.;Jason Yu.;Morton J Cowan.;Sadhna Rana.;Antonia Kwan.;Aashish N Adhikari.;Carlos O Lizama.;Bryce A Mendelsohn.;Shawn P Fahl.;Ajithavalli Chellappan.;Rajgopal Srinivasan.;Steven E Brenner.;David L Wiest.;Jennifer M Puck.
来源: N Engl J Med. 2016年375卷22期2165-2176页
Severe combined immunodeficiency (SCID) is characterized by arrested T-lymphocyte production and by B-lymphocyte dysfunction, which result in life-threatening infections. Early diagnosis of SCID through population-based screening of newborns can aid clinical management and help improve outcomes; it also permits the identification of previously unknown factors that are essential for lymphocyte development in humans.
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