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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Specialty: Immunology/Rheumatology
