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Inherited Deficiency of Mannan-Binding Lectin–Associated Serine Protease 2
Open accessAbstract
One pathway of complement activation involves mannan-binding lectin and its associated serine protease 2 (MASP-2). MASP-2 deficiency was identified in an adult with a history of ulcerative colitis, erythema multiforme bullosum, and possible systemic lupus erythematosus. He had had recurrent episodes of severe pneumococcal pneumonia. Studies documented that his mannan-binding lectin pathway of complement activation was not functional.
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A low-frequency missense variant in MASP2 (rs72550870, Asp120Gly, MAF = 3.0%), previously linked to MASP2 deficiency, is associated in trans with higher MASP1 levels (β = 0.17, P = 2.5 × 10 -15), reduced FCN2 levels (β = -0.22, P = 2.6 × 10 -32), higher FCN1 levels (β = 0.17, P = 1.4 × 10 -17) and lower C1QTNF9 levels (β = -0.12, P = 6.6 × 10 -14).
“Similarly, we found a low-frequency missense variant in MASP2 (rs72550870, Asp120Gly, MAF = 3.0%), previously linked to MASP2 deficiency [47][48][49] , associated in trans with higher MASP1 levels (β = 0.17, P = 2.5 × 10 -15 ; independent to the primary association), reduced FCN2 levels (β = -0.22,P = 2.6 × 10 -32 ), higher FCN1 levels (β = 0.17, P = 1.4 × 10 -17 ) and lower C1QTNF9 levels (β = -0”
From Plasma proteomic associations with genetics and health in the UK Biobank (2023) · cites this paper as [49]
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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
Ehrnthaller, C., Ignatius, A., Gebhard, F., & Huber-Lang, M. (2011) · Molecular Medicine · doi:10.2119/molmed.2010.00149 · Cited by 226
Metadata
- Authors
- Stengaard-Pedersen, K., Thiel, S., Gadjeva, M., Møller-Kristensen, M., Sørensen, R., Jensen, L. T., Sjöholm, A. G., Fugger, L., & Jensenius, J. C.
- Affiliations
- Aarhus University (DK)
- Aarhus University Hospital (DK)
- Lund University (SE)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2003-08-07
- Volume
- 349
- Issue
- 6
- Pages
- 554-560
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2085921825
- Cited by
- 253
- References
- 1
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 9 · 2021: 8 · 2020: 5 · 2019: 6 · 2018: 11 · 2017: 6 · 2016: 12 · 2015: 13 · 2014: 12 · 2013: 20 · 2012: 11
- FWCI
- 4.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Complement system in diseases
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Health Sciences › Medicine › Hematology › Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Keywords
- mannose-binding lectin, complement activation, pneumococcal pneumonia, ulcerative colitis, systemic lupus erythematosus, serine protease
- MeSH terms
- Adult, Antibodies, Monoclonal, Colitis, Ulcerative, Complement System Proteins, Humans, Male, Pulmonary Fibrosis, Serine Endopeptidases, Molecular Structure, Point Mutation, Sequence Analysis, DNA, Complement Pathway, Mannose-Binding Lectin, Mannose-Binding Protein-Associated Serine Proteases
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