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Article

A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation.

Frontiers in immunology - 1 Jan 2021

Lu Henry Y, Sertori Robert, Contreras Alejandra V, Hamer Mark, Messing Melina, Del Bel Kate L, Lopez-Rangel Elena, Chan Edmond S, Rehmus Wingfield, Milner Joshua D, McNagny Kelly M, Lehman Anna, Wiest David L, Turvey Stuart E

Abstract excerpt

B-cell lymphoma/leukemia 11B (BCL11B) is a C2H2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the immune system. Germline heterozygous variants are associated with a spectrum of clinical disorders, including severe combined immunodeficiency as well as neurological, craniofacial,...

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Identifiers

PMID: 34887873
DOI: 10.3389/fimmu.2021.788278
PMCID: PMC8650153

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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