PSTPIP1 and Pancytopenia: Furthermore, particular PSTPIP1 mutations, such as E250K (c.748G > A-p.Glu250Lys) have been associated with a distinct clinical entity, called PSTPIP1-associated myeloid-related-proteinemia inflammatory syndrome (PAMI) and characterized by PAPA-like symptoms, hepatosplenomegaly, pancytopenia and growth restriction.