PAMI (PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome) is a hereditary syndrome that may present with neutropenia during childhood. Misdiagnosis and delayed diagnosis are common.

PSTPIP1 = proline-serine-threonine phosphatase-interacting protein 1.


Patient selection: unexplained childhood neutropenia


Features that can be seen with PAMI:

(1) history of recurrent infections

(2) arthritis/arthralgias

(3) hepatosplenomegaly

(4) lymphadenopathy

(5) growth retardation


Laboratory findings:

(1) variable anemia and/or thrombocytopenia

(2) hyperzincemia

(3) elevated serum calprotectin

(4) elevated serum CRP

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