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BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.
Behdad Afzali, Juha Grönholm, Jana Vandrovcova, Charlotte O'Brien, Hong-Wei Sun, Ine Vanderleyden, Fred P Davis, Ahmad Khoder, Yu Zhang, Ahmed N Hegazy, Alejandro V Villarino, Ira W Palmer, Joshua Kaufman, Norman R Watts, Majid Kazemian, Olena Kamenyeva, Julia Keith, Anwar Sayed, Dalia Kasperaviciute, Michael Mueller, Jason D Hughes, Ivan J Fuss, Mohammed F Sadiyah, Kim Montgomery-Recht, Joshua McElwee, Nicholas P Restifo, Warren Strober, Michelle A Linterman, Paul T Wingfield, Holm H Uhlig, Rahul Roychoudhuri, Timothy J Aitman, Peter Kelleher, Michael J Lenardo, John J O'Shea, Nichola Cooper, Arian DJ Laurence
Jun 24, 2019
The transcriptional programs that guide lymphocyte differentiation depend on the precise expression and timing of transcription factors (TFs). The TF BACH2 is essential for T and B lymphocytes and is associated with an...
Adrenal Cortex Hormones Adult Autoimmune Diseases Basic-Leucine Zipper Transcription Factors Colitis Female Fever Haploinsufficiency Heterozygote Humans Immunologic Deficiency Syndromes Lymphopenia Male Middle Aged Mutation Pancytopenia Pedigree Polymorphism Single Nucleotide Recurrence Respiratory Tract Infections Splenomegaly Syndrome Tomography X-Ray Computed Young Adult