BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

doi:10.1038/ni.3753

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Article

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Nature immunology - 1 Jul 2017

Afzali Behdad, Grönholm Juha, Vandrovcova Jana, O'Brien Charlotte, Sun Hong-Wei, Vanderleyden Ine, Davis Fred P, Khoder Ahmad, Zhang Yu, Hegazy Ahmed N, Villarino Alejandro V, Palmer Ira W, Kaufman Joshua, Watts Norman R, Kazemian Majid, Kamenyeva Olena, Keith Julia, Sayed Anwar, Kasperaviciute Dalia, Mueller Michael, Hughes Jason D, Fuss Ivan J, Sadiyah Mohammed F, Montgomery-Recht Kim, McElwee Joshua, Restifo Nicholas P, Strober Warren, Linterman Michelle A, Wingfield Paul T, Uhlig Holm H, Roychoudhuri Rahul, Aitman Timothy J, Kelleher Peter, Lenardo Michael J, O'Shea John J, Cooper Nichola, Laurence Arian D J

Abstract excerpt

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 archetypal super-enhancer (SE). Single-nucleotide variants in the BACH2 locus are associated with several autoimmune diseases, but BACH2 mutations that cause Mendelian monogenic primary...

Topics

Adrenal Cortex Hormones
Adult
Autoimmune Diseases
Basic-Leucine Zipper Transcription Factors
Colitis
Female
Fever

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haploinsufficiency

Heterozygote

Humans

Immunologic Deficiency Syndromes

Lymphopenia

Male

Middle Aged

Mutation

Pancytopenia

Pedigree

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 28530713
DOI: 10.1038/ni.3753
PMCID: PMC5593426

Genes

BACH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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