The figure contains six panels: A, B, C, D, E, and F. Panel A shows a young boy with erythematous cutaneous lesions of the ears resembling chilblains. Panel B shows an adult male with infiltrated violaceous plaques. Panel C shows the same adult male with alopecic patches. Panel D comparing the type 1 interferon pathway activation in the proband and his father with controls. The y-axis represents the IFN score, and the x-axis lists the groups: Controls, Proband, and Affected father. The graph shows higher IFN scores in the proband and affected father compared to controls. Panel E is a family pedigree diagram indicating the inheritance of the E323G missense substitution in P2RY8. The diagram includes circles for females and squares for males, with filled shapes indicating affected status. The arrow points to the proband. Panel F is a table summarizing the clinical phenotype of the two affected patients, including various medical assessments and treatments.
Cutaneous involvement and type I IFN signaling status in the two affected patients. (A) Erythematous cutaneous lesions of the ears resembling chilblains in the son at age 5 years. (B) Infiltrated violaceous plaques in the father at age 35 years. (C) Alopecic patches in the father at age 35 years. (D) Type I IFN pathway activation in the proband and his father harboring the P2RY8 variant assessed through the analysis of the expression of 24 IFN-stimulated genes and 3 housekeeping genes using the NanoString technology. The horizontal bar indicates the median. Kruskal–Wallis test, *P < 0.05. Dotted lines indicate the upper control values of 2.724. (E) Family pedigrees where an affected individual harbors the heterozygous E323G missense substitution in P2RY8. Circles and squares indicate female and male family members, respectively. Filled shapes indicate affected status. The arrow indicates the proband. WT: wild type. (F) Table recapitulating the clinical phenotype of the two affected patients.