Recognizing mastocytosis in patients with anaphylaxis: value of KIT D816V mutation analysis of peripheral blood
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Using highly sensitive allele-specific qPCR, the KIT mutation can be identified in peripheral blood of most patients with systemic mastocytosis.
“Using a highly-sensitive allele-specific qPCR, the mutation can also be identified in the peripheral blood of most patients with SM (73-78).”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [75]
In the article’s opening and conclusion (page unavailable), the authors report that the vast majority of adults with systemic mastocytosis carry KIT D816V and describe sensitive peripheral-blood testing as having very high diagnostic sensitivity. They detected the mutation in four patients subsequently diagnosed with systemic mastocytosis. Our copy does not identify the assay as allele-specific qPCR or establish a detection rate among most patients with systemic mastocytosis; the study tested patients presenting with anaphylaxis. (LLM, conf=0.82)
Experimental — accuracy not yet measuredIn most adults with systemic mastocytosis, the D816V KIT mutation is detected.
“In most adults with SM, the D816V KIT mutation will be detected.”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [75]
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References 9 · Cited by 54
Research works printed but not linked: 8
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- Authors
- Broesby-Olsen, S., Oropeza, A. R., Bindslev-Jensen, C., Vestergaard, H., Møller, M. B., Siebenhaar, F., Kristensen, T., & Mortz, C. G.
- Affiliations
- Odense University Hospital (DK)
- University of Southern Denmark (DK)
- Stiftung Charité (DE)
- ORCID
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2015-01
- Volume
- 135
- Issue
- 1
- Pages
- 262-264
- ISSN
- 0091-6749 (ISSN-L)
- OpenAlex
- W2021124208
- Cited by
- 54
- References
- 9
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 3 · 2023: 2 · 2022: 1 · 2021: 5 · 2020: 5 · 2019: 7 · 2018: 5 · 2017: 9 · 2016: 8 · 2015: 5
- FWCI
- 3.35
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion)
- Funders
- Danone
- Ministero della Salute (GR-2007-686104, GGP07241)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal Tumor Research and Treatment
- Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
- Keywords
- systemic mastocytosis, anaphylaxis, KIT D816V mutation, peripheral blood, mastocytosis diagnosis, underdiagnosis
- MeSH terms
- Adult, Anaphylaxis, DNA Mutational Analysis, Female, Humans, Male, Mastocytosis, Middle Aged, Mutation, Proto-Oncogene Proteins c-kit
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