Interferonopathy

Dale RC et al. (2000) Familial systemic lupus erythematosus and congenital infection-like syndrome.

Singleton EB et al. (1973) An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition.

Gay BB et al. (1976) A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome).

None (1888) Harveian Lectures on Lupus.

None (2005) The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics.

None (1952) The clinical observations of Jonathan Hutchinson.

Weston WL et al. () Childhood pernio and cryoproteins.

Crow YJ et al. (2009) Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

None (2008) Aicardi-Goutières syndrome (AGS).

Lanzi G et al. (2005) The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

Crow YJ et al. (2004) Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Crow YJ et al. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

Feigenbaum A et al. (2013) Singleton-Merten syndrome: an autosomal dominant disorder with variable expression.

Aicardi J et al. (2000) Systemic lupus erythematosus or Aicardi-Goutières syndrome?

Crow YJ et al. (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Goutières F et al. (1998) Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

Akwa Y et al. (1998) Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

McEntagart M et al. (1998) Aicardi-Goutières syndrome: an expanding phenotype.

Kumar D et al. (1998) Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.

Raymond AA et al. (1996) Brain calcification in patients with cerebral lupus.

Tolmie JL et al. (1995) The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Aicardi J et al. (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Babbitt DP et al. (1969) Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children.

Giroud M et al. (1986) A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Schorr S et al. (1976) Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

Pansuriya TC et al. (2010) Enchondromatosis: insights on the different subtypes.

Renella R et al. (2007) A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].

Kulkarni ML et al. (2007) A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.

Bhargava R et al. (2005) Autosomal dominant inheritance of spondyloenchondrodysplasia.

Tüysüz B et al. (2004) Spondyloenchondrodysplasia: clinical variability in three cases.

Uhlmann D et al. (1998) Spondyloenchondrodysplasia: several phenotypes--the same syndrome.

Sauvegrain J et al. () [Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)].

Chagnon S et al. (1985) [Spondylo-enchondrodysplasia].

Menger H et al. (1989) Spondyloenchondrodysplasia.

Halal F et al. (1991) Generalized enchondromatosis in a boy with only platyspondyly in the father.

Robinson D et al. (1991) Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome.

Mehta L et al. (1986) Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

Spranger J et al. (1978) Two peculiar types of enchondromatosis.

Gustavson KH et al. (1978) Spondylometaphyseal dysplasia in two sibs of normal parents.

Mateen FJ et al. (2010) Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.

Cohn AC et al. (2005) Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome.

Siveke JT et al. (2003) Evidence for systemic manifestations in cerebroretinal vasculopathy.

Ophoff RA et al. (2001) Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.

Weil S et al. (1999) Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.

Terwindt GM et al. (1998) Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.

Gutmann DH et al. (1989) Hereditary retinal vasculopathy with cerebral white matter lesions.

Egritas O et al. (2009) Tricho-hepato-enteric syndrome presenting with mild colitis.

Girschick H et al. (2015) Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome.

Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome.

Rice GI et al. (2013) Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Sanchis A et al. (2005) Genetic syndromes mimic congenital infections.

Fabre A et al. (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Briggs TA et al. (2016) Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Bilginer Y et al. (2016) Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

de Bruin C et al. (2016) Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

Crow YJ et al. (2006) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Briggs TA et al. (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Lausch E et al. (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Navarro V et al. (2008) Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

Renella R et al. (2006) Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

None (1958) [A case of infantile generalized lupus erythematosus with unusual bone changes].

Roifman CM et al. (2003) A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

Frydman M et al. (1990) Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

Zhang X et al. (2015) Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Bogunovic D et al. (2012) Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.

Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Livingston JH et al. (2014) A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

Black DN et al. (1988) Encephalitis among Cree children in northern Quebec.

Ali M et al. (2006) A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

Vogt J et al. (2013) Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

Jang MA et al. (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Meuwissen ME et al. (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Knoblauch H et al. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

Rutsch F et al. (2015) A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Oda H et al. (2014) Aicardi-Goutières syndrome is caused by IFIH1 mutations.

Rice GI et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Valverde I et al. (2010) Singleton-merten syndrome and impaired cardiac function.

Ravenscroft JC et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

Rice GI et al. (2012) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

Lee-Kirsch MA et al. (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

Rice G et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.