Haematological involvement associated with a mild autoinflammatory phenotype, in two patients carrying the E250K mutation of PSTPIP1.

CONCLUSIONS: The patient described has a milder phenotype, with no skin features, minor episodes of arthritis with no sequelae and normal growth. Compared to the patients with de novo mutations described in the literature, familial cases seem to have a milder phenotype. Our case further confirms the lack of efficacy of anakinra on bone marrow involvement. PMID: 28628471 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28628471?dopt=Abstract

Source: Clinical and Experimental Rheumatology - June 21, 2017 Category: Rheumatology Tags: Clin Exp Rheumatol Source Type: research