Details of Disease

General Information of Disease (ID: DISRSAB9)

• Disease Name: Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
• Definition: 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.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISRSAB9: Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0800132
  UMLS CUI: C5676977
  OMIM ID: 619858
  MedGen ID: 1803642

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNASE2	OT6RC1BL	Strong	Autosomal recessive	[1]

References

• [1] Type I interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.