Iris M. Hollink

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 20 publications

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.

Human TBK1 deficiency: An expanded spectrum from autoinflammation to viral encephalitis.

Journal: Journal of human immunity

Published: November 17, 2025

IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.

IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.

Journal: The Journal of allergy and clinical immunology

Published: October 22, 2024

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.

Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.

Journal: Journal of clinical immunology

Published: November 01, 2021

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.

Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: October 21, 2021

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Journal: Frontiers in immunology

Published: September 20, 2021

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.

Journal: Cell

Published: December 23, 2020

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

Journal: Nature immunology

Published: November 13, 2020

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Journal: Journal of clinical immunology

Published: August 25, 2020

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.

Journal: Prenatal diagnosis

Published: April 15, 2020

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.

Journal: European journal of human genetics : EJHG

Published: January 31, 2020

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Journal: Mucosal immunology

Published: November 13, 2019

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

Journal: American journal of human genetics

Published: June 24, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026