Loss-of-function variants in the filaggrin
gene are a significant risk factor for peanut allergy.
Evaluation of anti-citrullinated filaggrin
antibodies as hallmarks for the diagnosis of rheumatic diseases.
is a protein produced during epidermal differentiation and it plays a key role in maintaining the water balance in the corneocytes of the stratum corneum.
Meta-analysis of filaggrin
polymorphisms in eczema and asthma: Robust risk factors in atopic disease.
The mutation turns out to be very common with about 1 in 10 Europeans having a filaggrin
gene mutation, and 1 in 400 individuals having two mutations.
In this study we compared the diagnostic accuracies of 6 ELISAs for detecting anticitrullinated protein/peptide antibodies (ACPA): 1 anticitrullinated rat filaggrin
antibody assay, 1 antimutated citrullinated vimentin antibody assay, and 4 anti-CCP antibody assays.
25) Other research has shown that filaggrin
expression is reduced under inflammatory conditions, providing a potential mechanistic link between early immune dysregulation and disruption of the skin barrier.
Association analysis of filaggrin
gene mutations and atopic dermatitis in Northern China.
Atopic dermatitis; eczema; filaggrin
null mutation; ILC2s; interleukin-13; interleukin-25; nuocytes; toll-like receptors; type 2 innate lymphoid cells
The earliest insight that filaggrin
was clinically important was in 1985, when Sybert and colleagues (13) proposed that it might be associated with the dry scaly skin condition ichthyosis vulgaris.
A newer diagnostic marker for RA is anti-citrullinated peptide antibodies (ACPAs), which can be identified by tests such as a line immunoassay (LIAT) for the detection of anti-pepA and antipepB antibodies (6), the anti-cyclic citrullinated peptide ELISA (7), an ELISA using citrullinated recombinant rat filaggrin
(8), and an ELISA using deiminated fibrinogen (9).
26) Conversely, patients with intrinsic disease often have total IgE levels within normal ranges, no other atopic diseases, and lower rates of filaggrin