Supplementary material Table S2. The 39 PSTPIP1 variants found in the study.
Description
*Possible misdiagnosed PAMI Each variant was classified by the ISSAID expert consortium and is accessible in the Infevers database. When missing, the classification was assessed according to American College of Medical Genetics guidelines. In silico prediction analysis of rare missense variants involved using MetaSVM, an ensemble score using a Support Vector Machine that integrates nine prediction scores and allele frequencies in the 1000 Genomes database (Dong et al. 2015). Abbreviations: AIDs, autoinflammatory diseases; CD, Crohn disease; CRMO, chronic recurrent multifocal osteomyelitis; ISSAID, International Society of Systemic Auto-Inflammatory Diseases; 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 andsSuppurative hidradenitis; VUS, variant of uncertain significance.