FOXP3 GENE ANALYSIS IN IPEX SYNDROME
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a rare disorder caused by variants in the FOXP3 gene (Wildin et al J Med Genet. 2002;39:537-545). The common phenotype found in IPEX syndrome is neonatal onset, insulin dependent diabetes mellitus and an autoimmune enteropathy resulting in chronic diarrhoea and failure to thrive. Skin manifestations are also very common, in particular eczema and exfoliative or atopic dermatitis. Other clinical features reported less frequently in IPEX include thrombocytopenia, haemolytic anaemia and hypothyroidism.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.