This study was supported by Principia Biopharma Inc., a Sanofi company.
Conflicts of interestConflicts of interest statements can be found in the Appendix.
Data availabilityQualified researchers may request access to patientlevel data and related documents (including, e.g., the clinical study report, study protocol with any amendments, blank case report form, statistical analysis plan, and dataset specifications). Patientlevel data will be anonymized, and study documents will be redacted to protect the privacy of trial participants. Further details on Sanofi's data sharing criteria, eligible studies, and process for requesting access can be found at https://www. clinicalstudydatarequest.com.
We describe a novel mutation in PSTPIP1 resulting in pyoderma gangrenosum, acne and ulcerative colitis. This novel constellation of clinical manifestations, which we term 'PAC syndrome', suggests the need to regroup all PSTPIP1-associated phenotypes under one aetiological group.
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