Aicardi–Goutières syndrome and the type I interferonopathies

YJ Crow, N Manel - Nature Reviews Immunology, 2015 - nature.com
Dissection of the genetic basis of Aicardi–Goutières syndrome has highlighted a
fundamental link between nucleic acid metabolism, innate immune sensors and type I …

[HTML][HTML] The type I interferonopathies: 10 years on

YJ Crow, DB Stetson - Nature Reviews Immunology, 2022 - nature.com
As brutally demonstrated by the COVID-19 pandemic, an effective immune system is
essential for survival. Developed over evolutionary time, viral nucleic acid detection is a …

Type I interferon–mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview

MP Rodero, YJ Crow - Journal of Experimental Medicine, 2016 - rupress.org
Type I interferon is a potent substance. As such, the induction, transmission, and resolution
of the type I interferon–mediated immune response are tightly regulated. As defined, the type …

Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a
genetic mimic of the sequelae of transplacentally acquired viral infection,. Evidence exists …

HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase

DC Goldstone, V Ennis-Adeniran, JJ Hedden… - Nature, 2011 - nature.com
SAMHD1, an analogue of the murine interferon (IFN)-γ-induced gene Mg11 (ref.), has
recently been identified as a human immunodeficiency virus-1 (HIV-1) restriction factor that …

[HTML][HTML] International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity

C Picard, H Bobby Gaspar, W Al-Herz… - Journal of clinical …, 2018 - Springer
Beginning in 1970, a committee was constituted under the auspices of the World Health
Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the …

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

GI Rice, PR Kasher, GMA Forte, NM Mannion… - Nature …, 2012 - nature.com
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield… - Nature …, 2009 - nature.com
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The …

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection

YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar… - Nature …, 2006 - nature.com
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the
clinical and immunological features of which parallel those of congenital viral infection. Here …

ASPM is a major determinant of cerebral cortical size

J Bond, E Roberts, GH Mochida, DJ Hampshire… - Nature …, 2002 - nature.com
One of the most notable trends in mammalian evolution is the massive increase in size of the
cerebral cortex, especially in primates. Humans with autosomal recessive primary …