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]
Biomedical Dictionary
The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
Molarity Calculator
Dilution Calculator
