Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B | Zendy

Divya Punwani | Zendy; Yong Zhang | Zendy; Jason Yu | Zendy; Morton J. Cowan | Zendy; Sadhna Rana | Zendy; Antonia Kwan | Zendy; Aashish N. Adhikari | Zendy; Carlos O. Lizama | Zendy; Bryce A. Mendelsohn | Zendy; Shawn P. Fahl | Zendy; Ajithavalli Chellappan | Zendy; Rajgopal Srinivasan | Zendy; Steven E. Brenner | Zendy; David L. Wiest | Zendy; Jennifer M. Puck | Zendy

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Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

Author(s) -

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

Publication year - 2016

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1509164

Subject(s) - severe combined immunodeficiency , missense mutation , exome sequencing , hematopoietic stem cell transplantation , stem cell , immunology , zebrafish , biology , population , immunodeficiency , medicine , haematopoiesis , transplantation , cancer research , immune system , mutation , genetics , gene , environmental health

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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