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Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response
Enrico Scala1, Stefania Madonna2, Daniele Castiglia3
1Clinical and Laboratory Molecular Allergy Unit, IDI-IRCCS, 00167 Rome, Italy.
Insights
Proteomic tests aid in diagnosing rare genetic disorders presenting with atopic dermatitis (AD)-like symptoms and high IgE levels. Multiplex microarray methods identified allergen sensitization profiles in patients with conditions like X-linked ichthyosis and Comel-Netherton syndrome.
Area of Science:
- Genetics and Immunology
- Dermatology
- Allergy Diagnostics
Background:
- Atopic dermatitis (AD) is a common pediatric inflammatory skin condition.
- Inborn errors often manifest early with AD-like symptoms and deregulated IgE.
- Proteomic tests enable precise diagnosis of complex genetic disorders.
Purpose of the Study:
- To evaluate the utility of multiplex proteomic and genomic techniques in diagnosing rare inborn errors with hyper-IgE (HIE).
- To characterize the sensitization profiles in patients with specific rare genetic conditions.
- To report the first association of X-chromosome microduplication with HIE.
Main Methods:
- Comparative genomic hybridization microarray (Array-CGH) was performed.
- Specific IgE evaluation utilized allergenic microarray systems (ISAC and ALEX2).
- Multiplex micro- and macroarray methods were employed for proteomic analysis.
Main Results:
- Proteomic multiplex methods successfully diagnosed sensitization profiles in four rare diseases: recessive X-linked ichthyosis, Comel-Netherton syndrome, monosomy 1p36 syndrome, and Xp11.4 microduplication.
- Patients exhibited polyreactivity to environmental and food allergens.
- The study describes the first association between X-chromosome microduplication and HIE, with IgE levels up to 10,430 kU/L.
Conclusions:
- Multiplex proteomic diagnostics are highly effective for identifying sensitization patterns in inborn errors with deregulated IgE.
- These advanced diagnostic tools should be integrated into the management of inborn errors associated with hyper-IgE.
- Early and precise diagnosis through proteomic analysis can improve patient outcomes.
Abstract:
(1) Background: Atopic dermatitis constitutes one of the most common inflammatory skin manifestations of the pediatric population. The onset of many inborn errors occurs early in life with an AD-like picture associated with a deregulated IgE response. The availability of proteomic tests for the simultaneous evaluation of hundreds of molecules allows for more precise diagnosis in these cases. (2) Methods: Comparative genomic hybridization microarray (Array-CGH) analysis and specific IgE evaluation by using allergenic microarray (ISAC) and microarray (ALEX2) systems were performed. (3) Results: Proteomic investigations that use multiplex methods have proven to be extremely useful to diagnose the sensitization profile in inborn errors with deregulated IgE synthesis. Four patients with rare diseases, such as recessive X-linked ichthyosis (RXLI, OMIM 308100), Comel-Netherton syndrome (NS, OMIM256500), monosomy 1p36 syndrome (OMIM: 607872), and a microduplication of Xp11.4 associated with extremely high levels of IgE: 7.710 kU/L, 5.300 kU/L, 1.826 kU/L, and 10.430 kU/L, respectively, were evaluated by micro- and macroarray multiplex methods. Polyreactivity to both environmental and food allergens was observed in all cases, including the first described case of association of X-chromosome microduplication and HIE. (4) Conclusions: Extensive use of proteomic diagnostics should be included among the procedures to be implemented in inborn errors with hyper-IgE.
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