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Article

Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations.

ImmunoHorizons - 1 Jul 2024

Voss Kelsey, Bartkowiak Todd, Sewell Allison E, Chi Channing, Landis Madelyn D, Schaefer Samuel, Pua Heather H, Connelly James A, Irish Jonathan M, Rathmell Jeffrey C, Kaviany Saara

Abstract excerpt

The transcription factor FOXN1 plays an established role in thymic epithelial development to mediate selection of maturing thymocytes. Patients with heterozygous loss-of-function FOXN1 variants are associated with T cell lymphopenia at birth and low TCR excision circles that can ultimately recover. Although CD4+ T cell reconstitution in these patients is not completely understood, a lower proportion of naive T...

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Identifiers

PMID: 39008056
DOI: 10.4049/immunohorizons.2400006
PMCID: PMC11294276

Genes

FOXN1
CD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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