Features of allergic status in a patient with T341P desminopathy

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Abstract

Desminopathies are considered rare or so-called “orphan” diseases. Therefore, little is known about sensitivity of these patients to allergens and physical factors. The aim of our report was to investigate the allergic status of a patient with desminopathy carrying T341P mutation in a heterozygous state. The retrospective study is based on a case of familial desminopathy identified in South-Western Siberia. Quantitative analysis of total and specific immunoglobulins in blood and coprofiltrate of a proband with desminopathy was carried out by means of turbidimetric and chemiluminescence immunoassay, enzyme allergosorbent testing, and ELISA technique. The proband with desminopathy was diagnosed with polyvalent allergy to plant-, food- and infectious allergens. Specific IgE antibodies to pollen of early-blooming meadow grasses and Secale cereale, as well as to cow’s milk, Mucor racemosus and Fusarium moniliforme fungi were found in the blood. Coprofiltrate from the patient revealed specific IgE to pollen of early-blooming meadow grasses and trees, as well as to chicken eggs and casein. Whereas total serum IgE level at the onset of clinical desminopathy symptoms showed two-fold increase over the reference values, it was decreased by 5.5 times over the past 10 years. Over the last two years, the total concentration and average level of specific IgG4 antibodies to food allergens in blood increased by 15%. Provocation tests for cold- and cholinergic urticaria were positive. A respiratory allergy, which emerged by the age of 20 could be the probable trigger of clinical events in desminopathy with T341P mutation. Just by this age, the proband developed ventricular extrasystolia, as well as a barely felt decrease in physical strength. Then, since the age of 30, there was a progressive weakness of the skeletal muscles and a noticeable decrease in physical strength, followed by whole-scale development of the disease, which became severe after 40 years old. Being combined with excessive colonization of intestinal and oral microbiota, and increased endotoxin levels, the polyvalent allergies with high concentration of specific IgG4 antibodies and other (sub)classes may participate in pathogenesis of T341P desminopathy.

About the authors

Viacheslav Y. Pauls

Northern Trans-Ural State Agricultural University

Author for correspondence.
Email: paulsvy@gausz.ru
ORCID iD: 0000-0002-6064-4671

PhD (Technology), Associate Professor, Department of Technical Systems in Agro-industrial Complex, Institute of Engineering Technology

Russian Federation, Tyumen

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