Autoinflammatory-pancytopenia syndrome

Definition:

Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy, and increased anti-DNA antibodies. Studies have identified mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy.

References:

[1]. Mathieu P Rodero, et al. Type I interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017 Dec 19;8(1):2176. [Content Brief]

[2]. Susan MacLauchlan, et al. Intracellular Sensing of DNA in Autoinflammation and Autoimmunity. Arthritis Rheumatol. 2022 Oct;74(10):1615-1624. [Content Brief]

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