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Condition report · Immunological
Rare inherited conditions in which the body's antiviral interferon signalling is switched on all the time, causing inflammation of the skin, blood vessels, lungs, joints or brain.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
Inflammation of small blood vessels and the lungs starting in infancy, caused by gain-of-function variants in STING1; JAK inhibitors are used in treatment.
Genes analysed
Also known as
SAVI; STING-associated vasculopathy, infantile-onset
Autosomal dominant
Lung disease with bleeding or interstitial changes, arthritis and kidney inflammation caused by variants in COPA.
Genes analysed
Also known as
AILJK; autoimmune interstitial lung, joint, and kidney disease; autoinflammation and autoimmunity, systemic, with immune dysregulation
Autosomal recessive
Recurrent fevers, skin lesions, loss of fat tissue and joint problems caused by defects in the proteasome (PSMB8, PSMB9, PSMB10, POMP and others).
Also known as
ALDD; ALDD syndrome; amyotrophy fat tissue anomaly; autoinflammation, lipodystrophy, and dermatosis syndrome; autoinflammation-lipodystrophy-dermatosis syndrome; CANDLE syndrome; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome; JMP syndrome; Joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy; Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy; Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome; Nakajo Nishimura syndrome; Nakajo syndrome; NNS; nodular erythema digital changes; PRAAS; proteasome disability syndrome; proteasome-associated autoinflammatory syndrome; secondary hypertrophic osteoperiostosis with pernio
Autosomal recessive
A skeletal dysplasia with autoimmunity, such as lupus or low platelets, caused by variants in ACP5.
Genes analysed
Also known as
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; Roifman Immunoskeletal syndrome; SEM; SPENCD; SPENCDI; spondyloenchondrodysplasia; spondyloenchondromatosis; spondylometaphyseal dysplasia with combined immunodeficiency; spondylometaphyseal dysplasia with enchondromatous changes
Autosomal dominant
Adult-onset damage to small blood vessels of the eye, brain, kidney and liver caused by specific TREX1 variants.
Genes analysed
Also known as
ADRVCL; autosomal dominant retinal vasculopathy with cerebral leukodystrophy; cerebroretinal vasculopathy; cerebroretinal vasculopathy, hereditary; CRV; grand Kaine fulling syndrome; hereditary vascular retinopathy; HVR; retinal vasculopathy and cerebral leukoencephalopathy; retinal vasculopathy with cerebral leukodystrophy; retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; RVCL; RVCL-S; vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
Autosomal recessive
Severe infant-onset brain inflammation and calcification resembling congenital infection, caused by USP18 deficiency.
Genes analysed
Also known as
PTORCH2
X-linked recessive
Net-like skin pigmentation in males with lung, eye and gut inflammation, caused by variants in POLA1.
Genes analysed
Also known as
familial cutaneous amyloidosis; Partington disease; PDR; pigmentary disorder, reticulate, with systemic manifestations; pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive; X-linked cutaneous amyloidosis; XLPDR
Autosomal dominant
Dental anomalies, calcification of the aorta and heart valves, and bone changes caused by IFIH1 gain-of-function variants.
Genes analysed
Also known as
IFIH1 singleton-Merten dysplasia; SGMRT1; singleton-Merten dysplasia caused by mutation in IFIH1
Autosomal dominant
A milder form of Singleton-Merten syndrome caused by variants in DDX58 (RIG-I).
Genes analysed
Also known as
DDX58 singleton-Merten dysplasia; SGMRT2; singleton-Merten dysplasia caused by mutation in DDX58; singleton-Merten syndrome type 2
Autosomal dominant
Painful, cold-induced skin lesions on the fingers, toes, ears and nose beginning in childhood, caused by variants in TREX1 or SAMHD1.
Genes analysed
Also known as
CHBL1; chilblain lupus; chilblain lupus caused by mutation in TREX1; chilblain lupus type 1; TREX1 chilblain lupus
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