Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.

ABSTRACT:

Background

Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions.

Methods

Clinical data of patients records were retrospectively accessed. Genomic DNA were extracted and sequenced following standard procedures. Peripheral lymphocytes were quantified in T, B e FOXP3 phenotypes.

Results

We describe two related patients with PAMI syndrome harboring the usual E250K mutation. Anti-IL1 therapy could partially control the disease in the index patient. A broad spectrum of immunological effects as well as an aberrant express

SUBMITTER: Mendonca LO 

PROVIDER: S-EPMC8365952 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature