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Aicardi-Goutières Syndrome Panel

Aicardi-Goutières Syndrome Panel

Aicardi-Goutières syndrome (AGS) is a serious congenital systemic condition affecting newborns. Although the majority of affected children do not present any symptoms at birth, about 20% of them immediately manifest a complex picture of hepatosplenomegaly, thrombocytopenia, increased liver enzymes and neurological alterations. The nervous system, in fact, is one of the targets of the syndrome, together with the immune system and the skin. These symptoms are also frequently found in viral infections present at birth (not found in cases of AGS), which is why this syndrome is called ""mimic of congenital infection"". The serious neuropathological picture typical of AGS manifests itself within the first year of life with severe episodes of encephalopathy, accompanied by intermittent fever and convulsions, microcephaly (which does not allow a correct development of the brain), loss of white matter (leukodystrophy), with consequent alteration of the transmission of nerve impulses along the myelinated fibers, pathological accumulation of calcium in the brain tissue, intellectual disabilities, infiltration of immunity cells in the cerebrospinal fluid, spasticity, dystonia and hypotonia (respectively: rigidity, involuntary contractions and muscle weakness). Furthermore, about 40% of children with AGS suffer from a microcirculation disorder called ""chilblains"", which makes the parts of the body exposed to cold red, swollen, painful and itchy; this annoying condition is also found in Systemic Lupus Erythematosus, one of the most common autoimmune diseases. It has in fact been observed that AGS has many points in common with this type of disease, being also characterized by an important inflammatory contribution. AGS syndrome is caused by mutations in 7 genes, which code for proteins responsible for the disposal of ""unwanted"" nucleic acids (DNA and RNA). It has therefore been hypothesized that the anomalous accumulation of these products causes an aberrant immune reaction, given by the fact that they are mistaken for viral particles. The typical systemic manifestations of AGS arise from this pathological mechanism.
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