Article
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.
The Journal of allergy and clinical immunology - 1 Mar 2014
Sharfe Nigel, Nahum Amit, Newell Andrea, Dadi Harjit, Ngan Bo, Pereira Sergio L, Herbrick Jo-Anne, Roifman Chaim M
Abstract excerpt
BACKGROUND: Mutations in the gene for the signal transducer and activator of transcription 1, STAT1, have been shown to be associated with death at an early age due to overwhelming viral infection (complete STAT1 deficiency) or, more commonly, selective deficiencies to mycobacterial or fungal infection (typically heterozygous STAT1 mutations). OBJECTIVES: To define the molecular basis of progressive combined...
Topics
Join the communities discussing this publication.