DISEASE: X-linked reticulate pigmentary disorder with systemic manifestations
Entry
H02484 Disease
Name
X-linked reticulate pigmentary disorder with systemic manifestations
Description
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.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Other metabolic disorders
5D00 Amyloidosis
H02484 X-linked reticulate pigmentary disorder with systemic manifestations
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H02484 X-linked reticulate pigmentary disorder with systemic manifestations
Gedeon AK, Mulley JC, Kozman H, Donnelly A, Partington MW
Title
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
Title
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
Title
NK cell defects in X-linked pigmentary reticulate disorder.
