Atopic Dermatitis Genetic Mutation

Atopic dermatitis (AD), or “atopic eczema” is an autosomal dominant disorder of immune dysfunction and epidermal barrier disruption. It is caused by a mutation in the gene CARD11 on chromosome 7p22 which encodes a scaffolding protein. Additionally, it has a strong relation to the FLG gene on the chromosome 1q21, encoding filaggrin. It affects mostly children and starts before five years old. However, it can continue to adulthood or start during it.

One copy of the mutant gene is sufficient to cause the disorder, and the association with one copy of the FLG gene is sufficient to increase the risk of the disorder. Although, genetic and environmental factors influence skin condition characteristics. The objective of this research is to have knowledge about CARD11 and FLG genes mutations involved with atopic dermatitis skin condition.
Studies through next generation sequencing have found a monogenic incidence of CARD11 gene, in patients with severe atopic dermatitis. Furthermore, variants mutations from FLG gene have shown the predisposition and correlation for asthma, as part of atopic dermatitis triad. Atopic dermatitis might not be lethal however, it affects quality of life of the subject. Consequently, syndromes of atopic dermatitis are caused by one or several mutations related to genes CARD11 and FLG.

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