D2.347 - Filaggrin Mutation in a Patient with Ant Anaphylaxis: Case Report and Literature Review

The filaggrin gene (FLG) is located on chromosome 1q21 within the epidermal differentiation complex. It plays a key role in maintaining an effective skin barrier against the environmental risks. Mutations in the FLG protein are not uncommon and have been shown to predispose to the development of ichthyosis vulgaris and atopic eczema and allergic diseases. Little is known about FLG’s association with anaphylaxis, particularly Hymenoptera venom anaphylaxis. 

We report an observation of a 30-year-old female with recurrent anaphylaxis for 2 years triggered by fire ant and black Samsum ant stings, requiring multiple intensive care unit admissions. Her genetic exome sequencing analysis identified a likely pathogenic loss-of-function FLG mutation.  She did not manifest typical features of ichthyosis vulgaris; however, she had a history of mild eczema since childhood.

Further investigations are needed to understand how FLG defects may contribute to broader systemic atopic disease, including venom anaphylaxis. Insights into such mechanisms may guide novel therapeutic strategies for these patients.