文献汇总 | 自身炎症性疾病的发现 | Discovery of Autoinflammatory Diseases

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Type 1 Interferonopathy

AGS (2006-2014)

Phenotype

• Aicardi J, Goutières F. A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49-54. doi:10.1002/ana.410150109

Genotype

• Crow YJ, Hayward BE, Parmar R, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917-920. doi:10.1038/ng1845
• Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910-916. doi:10.1038/ng1842
• Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829-832. doi:10.1038/ng.373
• Rice GI, Kasher PR, Forte GMA, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11). doi:10.1038/ng.2414
• Rice GI, Del Toro Duany Y, Jenkinson EM, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling. Nat Genet. 2014;46(5):503-509. doi:10.1038/ng.2933

Review paper

• Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol. 2015;15(7):429-440. doi:10.1038/nri3850

DADA2 (2014)

• Zhou Q, Yang D, Ombrello AK, et al. Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2. N Engl J Med. 2014;370(10):911-920. doi:10.1056/nejmoa1307361
• Navon Elkan P, Pierce SB, Segel R, et al. Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy. N Engl J Med. 2014;370(10):921-931. doi:10.1056/nejmoa1307362

DNase II deficiency (2017)

• Rodero MP, Tesser A, Bartok E, et al. Type i interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017;8(1). doi:10.1038/s41467-017-01932-3

OSA1 deficiency (2018)

• Cho K, Yamada M, Agematsu K, et al. Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am J Hum Genet. 2018;102(3):480-486. doi:10.1016/j.ajhg.2018.01.019

Pediatric SLE due to DNASE1L3 deficiency (2011)

• Al-Mayouf SM, Sunker A, Abdwani R, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43(12):1186-1188. doi:10.1038/ng.975

SAVI (2014)

• Jeremiah N, Neven B, Gentili M, et al. Inherited STING-activating mutation underlies a familial inflammatory. J Clin Invest. 2014;124(12):5516-5520. doi:10.1172/JCI79100DS1
• Liu Y, Jesus AA, Marrero B, et al. Activated STING in a Vascular and Pulmonary Syndrome. N Engl J Med. 2014;371(6):507-518. doi:10.1056/NEJMoa1312625

SPENCDI (2011)

Phenotype

• Schorr S, Legum C, Ochshorn M. Spondyloenchondrodysplasia. Echondromatomosis with severe platyspondyly in two brothers. Radiology. 1976;118(1):133-139. doi:10.1148/118.1.133

Genotype

• Lausch E, Janecke A, Bros M, et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011;43(2):132-137. doi:10.1038/ng.749
• Briggs TA, Rice GI, Daly S, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature. Nat Genet. 2011;43(2):127-131. doi:10.1038/ng.748

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