Term Name: autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
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 )

Relationships
is a type of: autosomal dominant disease vitamin metabolic disorder