Yanick J. Crow

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

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

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

The story of DNase II: a stifled death-wish leads to self-harm.

Lupus: how much "complexity" is really (just) genetic heterogeneity?

Type I interferonopathies: a novel set of inborn errors of immunity.

Aicardi-Goutières syndrome.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Basal ganglia calcification in a patient with beta-propeller protein-associated neurodegeneration.

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.

Type I interferonopathies: mendelian type I interferon up-regulation.

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

Neuromyelitis optica in a child with Aicardi-Goutières syndrome.

Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.

Novel monogenic diseases causing human autoimmunity.

cGMP-AMP synthase paves the way to autoimmunity.

ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

JAK inhibition in STING-associated interferonopathy.

Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.

Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.

Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Polymorphisms in IFIH1: the good and the bad.

Modeling of TREX1-Dependent Autoimmune Disease using Human Stem Cells Highlights L1 Accumulation as a Source of Neuroinflammation.

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Sort Your Self Out!

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.