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Search results (33)

« Back to Publications

FOXN1 remodels chromatin access and schedules fitness during thymus ontogeny

Dhalla F. et al, (2026)

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Blanco E. et al, (2025), J Exp Med, 222

European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia.

Kreins AY. et al, (2024), J Allergy Clin Immunol, 154, 1391 - 1408

Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema.

Peters NE. et al, (2024), N Engl J Med, 391, 56 - 59

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

Combined multidimensional single-cell protein and RNA profiling dissects the cellular and functional heterogeneity of thymic epithelial cells.

Klein F. et al, (2023), Nat Commun, 14

Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.

Shields AM. et al, (2022), Clin Exp Immunol, 209, 247 - 258

Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment.

Handel AE. et al, (2022), Sci Adv, 8

Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.

Hargreaves CE. et al, (2022), Clin Immunol, 234

Combined multidimensional single-cell protein and RNA profiling dissects the cellular and functional heterogeneity of thymic epithelial cells

Klein F. et al, (2022)

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.

Rota IA. et al, (2021), Sci Adv, 7

Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment

Handel AE. et al, (2021)

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.

Giardino G. et al, (2021), J Clin Immunol, 41, 756 - 768

A FOXN1 mutation competitively displaces wild-type FOXN1 from higher-order nuclear condensates to cause immunodeficiency

Rota IA. et al, (2021)

Inborn errors of thymic stromal cell development and function.

Kreins AY. et al, (2021), Semin Immunopathol, 43, 85 - 100

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