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South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin.
Thawer-Esmail F, Jakasa I, Todd G, Wen Y, Brown SJ, Kroboth K, Campbell LE, O'Regan GM, McLean WH, Irvine AD, Kezic S, Sandilands A. Thawer-Esmail F, et al. J Allergy Clin Immunol. 2014 Jan;133(1):280-2.e1-2. doi: 10.1016/j.jaci.2013.09.053. J Allergy Clin Immunol. 2014. PMID: 24369804 Free PMC article. No abstract available.
Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
Sandilands A, Brown SJ, Goh CS, Pohler E, Wilson NJ, Campbell LE, Miyamoto K, Kubo A, Irvine AD, Thawer-Esmail F, Munro CS, McLean WH, Kudoh J, Amagai M, Matsui T. Sandilands A, et al. Among authors: thawer esmail f. J Invest Dermatol. 2012 May;132(5):1507-10. doi: 10.1038/jid.2011.479. Epub 2012 Feb 9. J Invest Dermatol. 2012. PMID: 22318384 Free PMC article. No abstract available.