Supplementary material Table S1. Reported data for the 161 patients with PSTPIP1 variants.

Published: 05-08-2020| Version 2 | DOI: 10.17632/m5wthxf8n8.2
Boursier Guilaine


*This "asymptomatic" patient experienced chronic fatigue, arthralgia and myalgia. **This patient is homozygous for the variant described. Heterozygous changes were identified in both of the patient’s parents and in 7 other family members, all of whom were asymptomatic except that 2 of the 9 family members exhibit active acne-like lesions or acne-associated scars on the back. Abbreviations: ACMG, American College of Medical Genetics; AIDs, autoinflammatory diseases; CD, Crohn disease; CRMO, chronic recurrent multifocal osteomyelitis; CRP, C-reactive protein; FRA, familial recurrent arthritis; HGVS, Human Genome Variation Society; FMF, familial Mediterranean fever; PAC, pyoderma gangrenosum with acne and ulcerative colitis; PAMI, PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome; PAPA, pyogenic sterile arthritis, pyoderma gangrenosum, and acne; PG, pyoderma gangrenosum; PAPASH; pyoderma gangrenosum, acne and suppurative hidradenitis with pyogenic arthritis; PASH, pyoderma gangrenosum, acne and suppurative hidradenitis; VUS, variant of uncertain significance.