Mutation of DNASE1 in people with systemic lupus erythematosus - PubMed (original) (raw)
Mutation of DNASE1 in people with systemic lupus erythematosus
K Yasutomo et al. Nat Genet. 2001 Aug.
Abstract
Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extremely high immunoglobulin G titer against nucleosomal antigens. These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.
Similar articles
- Features of systemic lupus erythematosus in Dnase1-deficient mice.
Napirei M, Karsunky H, Zevnik B, Stephan H, Mannherz HG, Möröy T. Napirei M, et al. Nat Genet. 2000 Jun;25(2):177-81. doi: 10.1038/76032. Nat Genet. 2000. PMID: 10835632 - Impaired degradation and aberrant phagocytosis of necrotic cell debris in the peripheral blood of patients with primary Sjögren's syndrome.
Fragoulis GE, Vakrakou AG, Papadopoulou A, Germenis A, Kanavakis E, Moutsopoulos HM, Manoussakis MN. Fragoulis GE, et al. J Autoimmun. 2015 Jan;56:12-22. doi: 10.1016/j.jaut.2014.08.004. Epub 2014 Sep 16. J Autoimmun. 2015. PMID: 25228497 - Molecular analysis of HumDN1 VNTR polymorphism of the human deoxyribonuclease I in systemic lupus erythematosus.
AlFadhli S, AlTamimy B, Kharrat N, AlSaeid K, Haider MZ, Rebai A. AlFadhli S, et al. Int J Immunogenet. 2010 Feb;37(1):5-8. doi: 10.1111/j.1744-313X.2009.00881.x. Epub 2009 Oct 5. Int J Immunogenet. 2010. PMID: 19863681 - [Difficulties in differential diagnosis of Sjögren's syndrome and systemic lupus erythematosus].
Krawiec P, Batko B, Skura A, Adamek-Guzik T, Cześnikiewicz-Guzik M, Krzanowski M, Rydz-Stryszowska I, Ryszawa N, Guzik TJ. Krawiec P, et al. Przegl Lek. 2006;63(5):278-83. Przegl Lek. 2006. PMID: 17036505 Review. Polish. - DNase 1 and systemic lupus erythematosus.
Martínez Valle F, Balada E, Ordi-Ros J, Vilardell-Tarres M. Martínez Valle F, et al. Autoimmun Rev. 2008 May;7(5):359-63. doi: 10.1016/j.autrev.2008.02.002. Epub 2008 Mar 10. Autoimmun Rev. 2008. PMID: 18486922 Review.
Cited by
- Monogenic lupus - from gene to targeted therapy.
Menzel K, Novotna K, Jeyakumar N, Wolf C, Lee-Kirsch MA. Menzel K, et al. Mol Cell Pediatr. 2024 Sep 12;11(1):8. doi: 10.1186/s40348-024-00181-x. Mol Cell Pediatr. 2024. PMID: 39264482 Free PMC article. Review. - Systemic mechanisms of necrotic cell debris clearance.
Schuermans S, Kestens C, Marques PE. Schuermans S, et al. Cell Death Dis. 2024 Aug 1;15(8):557. doi: 10.1038/s41419-024-06947-5. Cell Death Dis. 2024. PMID: 39090111 Free PMC article. Review. - The immunology of systemic lupus erythematosus.
Tsokos GC. Tsokos GC. Nat Immunol. 2024 Aug;25(8):1332-1343. doi: 10.1038/s41590-024-01898-7. Epub 2024 Jul 15. Nat Immunol. 2024. PMID: 39009839 Review. - Type I interferon pathway in pediatric systemic lupus erythematosus.
Zhou Y, Song HM. Zhou Y, et al. World J Pediatr. 2024 Jul;20(7):653-668. doi: 10.1007/s12519-024-00811-4. Epub 2024 Jun 25. World J Pediatr. 2024. PMID: 38914753 Free PMC article. Review. - De novo variants in immune regulatory genes in Down syndrome regression disorder.
Jafarpour S, Banerjee AK, Khoshnood MM, Vogel BN, Boyd NK, Nguyen L, Partridge R, Santoro SL, Gombolay GY, Fisher KS, de Asua DR, Del Ortega MC, Franklin C, Rafii MS, Santoro JD. Jafarpour S, et al. J Neurol. 2024 Aug;271(8):5567-5576. doi: 10.1007/s00415-024-12521-y. Epub 2024 Jun 22. J Neurol. 2024. PMID: 38909119 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases