Iris H I M Hollink
Overview
Explore the profile of Iris H I M Hollink including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
740
Followers
0
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Recent Articles
1.
Zondag T, Torralba-Raga L, van Laar J, Hermans M, Bouman A, Hollink I, et al.
J Clin Immunol
. 2022 Jul;
42(8):1685-1695.
PMID: 35870028
Autosomal recessive mutations in RAB27A are associated with Griscelli syndrome type 2 (GS2), characterized by hypopigmentation and development of early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). We describe a 35-year old...
2.
Zhou Z, Hollink I, Bouman A, S Lourens M, Brooimans R, van Ham T, et al.
Pediatr Allergy Immunol
. 2022 Apr;
33(4):e13768.
PMID: 35470942
No abstract available.
3.
Elsink K, Huibers M, Hollink I, Simons A, Zonneveld-Huijssoon E, van der Veken L, et al.
Front Immunol
. 2022 Jan;
12:780134.
PMID: 34992599
Objective: Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes...
4.
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, et al.
Cell
. 2021 Aug;
184(17):4447-4463.e20.
PMID: 34363755
TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26,...
5.
Tyler P, Bucklin M, Zhao M, Maher T, Rice A, Ji W, et al.
Nat Immunol
. 2021 Jul;
22(9):1118-1126.
PMID: 34326534
Transcription factors specialized to limit the destructive potential of inflammatory immune cells remain ill-defined. We discovered loss-of-function variants in the X-linked ETS transcription factor gene ELF4 in multiple unrelated male...
6.
Joosse M, Charbit-Henrion F, Boisgard R, Raatgeep R, Lindenbergh-Kortleve D, Costes L, et al.
Mucosal Immunol
. 2021 Jul;
14(5):1172-1182.
PMID: 34226674
Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a...
7.
Blom M, Bredius R, Jansen M, Weijman G, Kemper E, Vermont C, et al.
J Clin Immunol
. 2020 Oct;
41(1):99-108.
PMID: 33070266
Purpose: While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if...
8.
Elsink K, Huibers M, Hollink I, van der Veken L, Ernst R, Simons A, et al.
Eur J Hum Genet
. 2020 Aug;
29(1):20-28.
PMID: 32733070
Dutch genome diagnostic centers (GDC) use next-generation sequencing (NGS)-based diagnostic applications for the diagnosis of primary immunodeficiencies (PIDs). The interpretation of genetic variants in many PIDs is complicated because of...
9.
van der Meij K, Sistermans E, Macville M, Stevens S, Bax C, Bekker M, et al.
Am J Hum Genet
. 2019 Nov;
105(6):1091-1101.
PMID: 31708118
The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2...
10.
Williams L, Javed A, Sabri A, Morgan D, Huff C, Grigg J, et al.
Genet Med
. 2019 Apr;
21(9):2103-2115.
PMID: 30967659
Purpose: To identify the molecular cause in five unrelated families with a distinct autosomal dominant ocular systemic disorder we called ROSAH syndrome due to clinical features of retinal dystrophy, optic...