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Distinct plasma biomarkers confirm the diagnosis of mastocytosis and identify increased risk of anaphylaxis

Journal of Allergy and Clinical Immunology, 2021

Gülen T., Teufelberger A., Ekoff M., Westerberg C., Lyberg K., Dahlén S., Dahlén B., Nilsson G.

Disease areaApplication areaSample typeProducts
Immunological & Inflammatory Diseases
Patient Stratification
Plasma

Abstract

Background
Mastocytosis encompasses a heterogeneous group of disorders characterized by accumulation of clonal mast cells (MCs) in the skin and/or internal organs. Patients typically present with a broad variety of recurrent mediator-related clinical symptoms, including severe anaphylaxis. However, not all patients with mastocytosis experience anaphylactic reactions.

Objective
We sought to identify disease-specific biomarkers in plasma that could be used to predict patients with mastocytosis with increased risk of anaphylaxis.

Methods
Nineteen patients (≥18 years) and 2 control groups (11 subjects with allergic asthma and 13 healthy volunteers without history of atopy) were recruited. In total, 248 plasma proteins were analyzed by Proximity Extension Assay using Olink Proseek Multiplex panels.

Results
We identified 4 novel proteins, in addition to tryptase, E-selectin, adrenomedullin, T-cell immunoglobulin, and mucin domain 1, and CUB domain–containing protein 1/CD138 to be significantly increased in patients with mastocytosis compared with both patients with asthma and healthy controls. Furthermore, we investigated whether we could discriminate between patients with mastocytosis with or without anaphylaxis. In addition to tryptase, we identified 3 novel proteins, that is, allergin-1, pregnancy-associated plasma protein-A, and galectin-3, with significantly different levels in patients with mastocytosis with anaphylaxis compared with those without anaphylaxis.

Conclusions
Newly identified proteomic biomarkers may be used to predict patients with mastocytosis with increased risk of anaphylaxis.

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