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GTR Home > Conditions/Phenotypes > Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency

Synonyms
Autoinflammatory-pancytopenia syndrome

Summary

Autoinflammatory-pancytopenia syndrome (AIPCS) is 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 (Rodero et al., 2017). Treatment with a JAK (see 147795) inhibitor (baricitinib) may be effective (Hong et al., 2020). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIPCS, DNASE2A, DNL, DNL2, DNASE2
    Summary: deoxyribonuclease 2, lysosomal

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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