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Article

Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.

Genes and immunity - 1 Jun 2024

García-Aznar José María, Alonso Alvarez Sara, Bernal Del Castillo Teresa

Abstract excerpt

The transcription factor BCL11B plays an essential role in the development of central nervous system and T cell differentiation by regulating the expression of numerous genes involved in several pathways. Monoallelic defects in the BCL11B gene leading to loss-of-function are associated with a wide spectrum of phenotypes, including neurological disorders with or without immunological features and susceptibility to...

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Identifiers

PMID: 38472338
DOI: 10.1038/s41435-024-00263-w
PMCID: PMC11178493

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