Description

PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome is a rare autoinflammatory disorder which can be a challenge to diagnose.


Gene: proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1)

Chromosome: 15q24.3

Function: effector of T cell activation and adhesion; downregulates CD2-triggered adhesion

 

Clinical features:

(1) early onset (during infancy)

(2) recurrent fever

(3) hepatosplenomegaly

(4) failure to thrive

(5) variable developmental delay

(6) lymphadenopathy

 

Laboratory features:

(1) chronic neutropenia or pancytopenia

(2) persistently elevated inflammatory markers including CRP and a marked increase in serum calprotectin

(3) high serum zinc concentration

(4) elevated serum ferritin

(5) elevated serum interleukin-18

 

There is dramatic improvement to therapy with anakinra.


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