X-linked reticulate pigmentary disorder

[2] Loss of POLA1 expression resulted in reduced levels of RNA:DNA hybrids in the cytosol and unexpectedly triggered aberrant immune responses (e.g. type I interferon production) which in part can account for the symptoms associated with XLPDR.[2] Another trigger of the immunodeficiency phenotype is a functional deficiency of Natural killer (NK) cells, which are major players in innate antiviral immune system.However, skin pathologies, recurrent lung infection, high titer of interferon type I in the blood, and impaired direct cytotoxicity of NK cells are the most common symptoms.In females, the disease is characterized by skin rashes, linear hyperpigmentation following the Blaschko's lines, morphologically similar to stage 3 pigment incontinence.A path for definitive treatment for XLPDR is at present unclear, but it is tempting to speculate whether the immunologic disturbance is predominantly driven by the hematopoietic compartment.
X-linked reticulate pigmentary disorder with systematic manifestations
X-linked reticulate pigmentary disorder with systematic manifestations
X-linked recessiveX-linked genetic conditionsymptomspigmentationbiopsydermal depositsamyloidFemaleshyperpigmentationsyndromeacronymrecessiveMutationDNA polymerase-αcytosolimmune responsestype I interferonphenotypeNatural killer (NK) cellsimmune systemreticular hyperpigmentationanti-viral type I interferonAicardi-Goutiere syndromeSystemic Lupus ErythematosusPsoriasisimmunodeficiencyNK cellscytotoxicityantibody-dependent cell cytotoxicityrespiratory infectionsDyskeratosis cornealPhotophobiaHypohidrosisNK cellGrowth retardationGastrointestinal disordersKidney diseaseKidney stonesUrinary infectionsWebbed feet or handsElectrolyte imbalanceRetinitis pigmentosaLymphedemaThyroid abnormalitiesskin pathologieslung infectioninterferon type Iskin rashesBlaschko's linesmorphologicallystage 3 pigment incontinenceadolescenceGastrointestinalurinary tractpneumoniafertilityprobandsintronicallelic heterogeneityantibioticsprophylacticcystic fibrosisUrethral stricturesblindnesscorneal transplantationJAK inhibitorsbaricitinibruxolitinibcolitistofacitinibinterferon receptorimmunologic disturbancehematopoietichematopoietic stem cell transplantationgene therapyautologous stem cell transplantWaardenburg syndromeList of cutaneous conditionsOrphanet