Term Name: | autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia |
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Synonyms: | |
Definition: | A vitamin metabolic disorder characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin that has_material_basis_in heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. |
Ontology: | Human Disease [DOID:0061185] ( DOID:0061185 ) |