Supplementary material Table S1. Reported data for the 156 patients with PSTPIP1 variants.
Description
For simplification, we have used in tables a short protein denomination such as A230T for p.(Ala230Thr). *This "asymptomatic" patient experienced chronic fatigue, arthralgia and myalgia. **This patient is homozygous for the variant described. 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.