X-linked reticulate pigmentary disorder with systemic manifestations

Definition:

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.

References:

[1]. A K Gedeon, et al. Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis. Am J Med Genet. 1994 Aug 1;52(1):75-8. [Content Brief]

[2]. Petro Starokadomskyy, et al. DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016 May;17(5):495-504. [Content Brief]

[3]. Petro Starokadomskyy, et al. NK cell defects in X-linked pigmentary reticulate disorder. JCI Insight. 2019 Nov 1;4(21):e125688. [Content Brief]

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