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Article

FOXN1 immunodeficiency detected by TREC-based newborn screening - A challenge of management?

Immunology letters - 1 Jun 2026

Graafen Lea, Borkhardt Arndt, Reiß Julian, Soura Stavrieta, Laws Hans-Jürgen, Uhrberg Markus, Paulusch Stefan, De Domenico Elena, Beyer Marc D, Bennstein Sabrina B, Ghosh Sujal

Abstract excerpt

Incomplete genotype-phenotype correlations challenge the management of non-SCID FOXN1 immunodeficiency. We describe the detailed clinical course of three distinct newborns with four novel FOXN1 mutations identified by TRECNBS. For comprehensive immune characterization advanced flow cytometry-based immunophenotyping was employed alongside high-resolution single-cell RNA sequencing. In our cohort, we detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41610918
DOI: 10.1016/j.imlet.2026.107142

Genes

FOXN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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