Caspar I. Van Der Made

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 29 publications

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Journal: American journal of human genetics

Published: October 13, 2025

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Journal: Advanced genetics (Hoboken, N.J.)

Published: April 30, 2025

Interferon gamma rebalances immunopathological signatures in chronic granulomatous disease through metabolic rewiring.

Interferon gamma rebalances immunopathological signatures in chronic granulomatous disease through metabolic rewiring.

Journal: Blood advances

Published: February 12, 2025

A novel missense variant in TNFAIP3 associated with autoimmunity reveals the contribution of STAT1/mTOR pathways.

A novel missense variant in TNFAIP3 associated with autoimmunity reveals the contribution of STAT1/mTOR pathways.

Journal: Clinical and experimental immunology

Published: November 11, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 2024

Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

Stratified analyses refine association between TLR7 rare variants and severe COVID-19.

Journal: HGG advances

Published: February 16, 2024

Multi-omic profiling of pathogen-stimulated primary immune cells.

Multi-omic profiling of pathogen-stimulated primary immune cells.

Journal: iScience

Published: November 08, 2023

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

Journal: Journal of clinical immunology

Published: November 07, 2023

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

Journal: American journal of human genetics

Published: October 05, 2023

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Journal: Journal of clinical immunology

Published: June 22, 2023

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Journal: The New England journal of medicine

Published: June 21, 2023

Showing 1-12 of 29

Last Updated: 09/26/2026