Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

Biallelic mutations in any of the four mismatch repair genes MSH2 , MSH6 , MLH1 and PMS2 result in one of the most aggressive childhood cancer predisposition syndromes, termed constitutional mismatch repair deficiency (CMMRD) syndrome. In addition to a very high tumour risk, the CMMRD phenotype is often characterised by the presence of signs reminiscent of neurofibromatosis type 1. Although paediatric systemic lupus erythematosus (pSLE) has been...