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Lookup NU author(s): Dr Venetia BigleyORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Proline-serine-threonine phosphatase interacting protein-1 (PSTPIP1)–associated myeloid-related inflammatory (PAMI) syndrome with hyperzincemia is a rare autoinflam- matory disorder associated with enhanced pyrin activity and inflammasome activation. Clinical features include cutane- ous and systemic inflammation, failure to thrive, hepatos- plenomegaly, lymphadenopathy, and cytopenias. Pathogenic variants in PSTPIP1 are frequently associated with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syn- drome [1, 2]. Patients with PAMI have distinct mutations (E250K or less commonly E275K), and exhibit more pro- nounced systemic inflammation and cytopenias but less joint involvement than individuals with PAPA syndrome .We present two unrelated, Caucasian Irish cases of PAMI syndrome and describe the inflammatory signature associ- ated with the condition. Both patients have the same het- erozygous E250K variant in PSTPIP1; one was diagnosed as an adult, the other in childhood.
Author(s): Cox F, Bigley V, Irvine A, Leahy R, Conlon N
Publication type: Article
Publication status: Published
Journal: Journal of Clinical Immunology
Print publication date: 01/07/2022
Online publication date: 19/04/2022
Acceptance date: 24/03/2022
Date deposited: 21/04/2022
ISSN (print): 0271-9142
ISSN (electronic): 1573-2592
Publisher: Springer New York LLC
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