autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia

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_bas

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.

Signs and symptoms

• Diarrhea
• Osteoporosis
• Hepatomegaly
• Increased serum zinc
• Skin rash
• Vasculitis
• Immunodeficiency