P. Tuijnenburg

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Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Lynch, Gilmour, Sri V. V. Deevi, 2020 .

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Ivan K. Chinn, J. Lupski, U. Pannicke, 2019, The Journal of allergy and clinical immunology.

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Sri V. V. Deevi, Kenneth G. C. Smith, Nicholas S. Gleadall, 2018, bioRxiv.

Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.

Kenneth G. C. Smith, M. Brown, É. Oksenhendler, 2018 .

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

T. Kuijpers, M. Alders, A. Bosch, 2017, Front. Pediatr..

The TNF Receptor Superfamily-NF-κB Axis Is Critical to Maintain Effector Regulatory T Cells in Lymphoid and Non-lymphoid Tissues.

W. Shi, Yang Liao, G. Smyth, 2017, Cell reports.

High‐throughput compound screen reveals mTOR inhibitors as potential therapeutics to reduce (auto)antibody production by human plasma cells

R. Beijersbergen, T. Kuijpers, C. Lieftink, 2019, European journal of immunology.

Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

H. Lango Allen, T. Kuijpers, G. D. de Bree, 2019, Clinical immunology.

Targeting NF-κB signaling in B cells as a potential new treatment modality for ANCA-associated vasculitis.

T. Bijma, T. Kuijpers, L. Bergamaschi, 2023, Journal of autoimmunity.

P075 Targeting NF-ΚB signalling in B cells: a potential new treatment modality for anca-associated vasculitis

N. de Vries, P. Klarenbeek, P. Kucharzewska, 2018, Abstracts.

1 Whole genome sequencing of a sporadic primary immunodeficiency cohort 2

Sri V. V. Deevi, Nicholas S. Gleadall, K. Stirrups, 2020 .