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Paper Details

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Nat Immunol
98
2017
BACH2, BACH2 haploinsufficiency, BACH2 immunodeficiency, BACH2 locus, BACH2 mutations, BACH2-related immunodeficiency and autoimmunity, BRIDA, Bach2-, Mendelian diseases of immunity, SE, SE-regulated genes, T and B lymphocytes, TF BACH2, archetypal super-enhancer, autoimmune diseases, haploinsufficiency, immunoglobulin, immunoglobulin deficiency, intestinal inflammation, lymphocyte, lymphocyte-, mice, monogenic haploinsufficient diseases, super-enhancers
Author NameAffiliation
Jana VandrovcovaInstitute of Neurology, University College London
Jana VandrovcovaImperial College London
Fred P DavisNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
Alejandro V VillarinoNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
Dalia KasperaviciuteHammersmith Hospital
Nicholas P RestifoNational Cancer Institute, National Institutes of Health
Nicholas P RestifoNational Cancer Institute, National Institutes of Health
Rahul RoychoudhuriBabraham Institute
John J O'SheaNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
John J O'SheaNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
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