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Defining Genotype to Phenotype Causality in Patients with Diverse FOXN1 Variants

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Defining Genotype to Phenotype Causality in Patients with Diverse FOXN1 Variants

Katelyn Boetel et al · Rockefeller University Press · 2026 · ISSN 3065-8993

BackgroundForkhead box N1 (FOXN1) is the master transcriptional regulator of thymic epithelial cells (TECs), quintessential for T cell development. Well-defined biallelic FOXN1 loss-of-function variants lead to congenita...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

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Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Juyoung Kim et al · Rockefeller University Press · 2026 · ISSN 3065-8993

Galactosemia involves different forms of inborn errors of metabolism affecting galactose processing. Different from type 1 and type 2, respectively, related to GALT and GALK1 defects, type 3 galactosemia is due to bialle...

LCC LCC:Immunologic diseases. AllergyIdioma eng

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