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PAMI Syndrome: Two Cases of an Autoinflammatory Disease with an ALPS-Like Phenotype

Lookup NU author(s): Dr Venetia BigleyORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

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 [3].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.

Publication metadata

Author(s): Cox F, Bigley V, Irvine A, Leahy R, Conlon N

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Immunology

Year: 2022

Volume: 42

Pages: 955–958

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

URL: https://doi.org/10.1007/s10875-022-01265-x

DOI: 10.1007/s10875-022-01265-x

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