X-linked reticulate pigmentary disorder with systemic manifestations (XLPDR), previously known as X-linked cutaneous amyloidosis, is a rare syndrome characterized by recurrent infections and sterile multiorgan inflammation. The syndrome is caused by an intronic mutation in POLA1, the gene encoding the catalytic subunit of DNA polymerase alpha.
Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW
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Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis.
Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E
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DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
Starokadomskyy P, Wilton KM, Krzewski K, Lopez A, Sifuentes-Dominguez L, Overlee B, Chen Q, Ray A, Gil-Krzewska A, Peterson M, Kinch LN, Rohena L, Grunebaum E, Zinn AR, Grishin NV, Billadeau DD, Burstein E
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NK cell defects in X-linked pigmentary reticulate disorder.
