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Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis
Abstract
In a recent issue of Gut , Muller et al reported on excessive colitis in a murine model of mannan-binding lectin (MBL) deficiency.1 They showed that absence of MBL can lead to uncontrolled intestinal inflammation detrimental to the host. MBL is a pattern-recognition molecule activating the complement system by the lectin pathway. H-ficolin is structurally closely related to MBL and can activate the lectin pathway of complement independently of MBL. While low levels of MBL occur in 10% of Caucasians, H-ficolin deficiency is extremely rare: studies involving over 100 000 adults found no case of H-ficolin deficiency, suggesting it exerts crucial functions for the human immune system.2 The first report on the so far only patient diagnosed with H-ficolin deficiency was published only recently,3 describing a patient with repeated infections who presented …
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The trans pQTL at FCN3 is a low-frequency frameshift variant (rs532781899, MAF = 1.4%) leading to FCN3 deficiency and reduced MASP1 levels (β = -1.16, P = 3.8 × 10 -312).
“Notably, the trans pQTL at FCN3 is a low-frequency frameshift variant (rs532781899, MAF = 1.4%) leading to FCN3 deficiency [44][45][46] and, here, to reduced MASP1 levels (β = -1.16,P = 3.8 × 10 -312 )”
From Plasma proteomic associations with genetics and health in the UK Biobank (2023) · cites this paper as [46]
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Plasma proteomic associations with genetics and health in the UK Biobank
Sun, B. B., Chiou, J., Traylor, M., Benner, C., Hsu, Y.-H., Richardson, T. G., Surendran, P., Mahajan, A., Robins, C., Vasquez-Grinnell, S. G., et al. (2023) · Nature · doi:10.1038/s41586-023-06592-6 · Cited by 1,880
Metadata
- Authors
- Schlapbach, L. J., Thiel, S., Kessler, U., Ammann, R. A., Aebi, C., & Jensenius, J. C.
- Affiliations
- University of Bern (CH)
- Aarhus University (DK)
- Corresponding author
- Schlapbach, Luregn J
- Venue
- Gut
- Publisher
- BMJ
- Published
- 2010-10-22
- Volume
- 60
- Issue
- 10
- Pages
- 1438-1439
- ISSN
- 0017-5749 (ISSN-L)
- 1468-3288
- OpenAlex
- W2171747026
- Cited by
- 57
- References
- 0
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 2 · 2022: 4 · 2021: 2 · 2020: 2 · 2019: 4 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 8 · 2014: 6 · 2013: 11 · 2012: 6
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gut (publishedVersion)
- PubMed (publishedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Health Sciences › Nursing › Nutrition and Dietetics › Infant Nutrition and Health
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- mannose-binding lectin, necrotizing enterocolitis, preterm infants, innate immunity, colitis, pattern recognition molecules
- MeSH terms
- Animals, Antibodies, Fungal, Colitis, Humans, Intestinal Mucosa, Mannose, Mannose-Binding Lectin
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