hereditary disease autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/autoinflammatory_pancytopenia_syndrome OMIM:619858 An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs), consistent with a type I interferonopathy. MONDO:0800132 MEDGEN:1803642 UMLS:C5676977