{"id":1350,"date":"2019-09-25T03:33:24","date_gmt":"2019-09-25T03:33:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1350"},"modified":"2026-02-24T00:25:34","modified_gmt":"2026-02-24T00:25:34","slug":"paediatric-systemic-lupus-erythematosus-as-a-manifestation-of-constitutional-mismatch-repair-deficiency","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/25\/paediatric-systemic-lupus-erythematosus-as-a-manifestation-of-constitutional-mismatch-repair-deficiency\/","title":{"rendered":"Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency (Contributed by Dr. Yael Goldberg)"},"content":{"rendered":"

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive cancer predisposition syndrome, causing caf\u00e9 au lait macules, brain malformations and and multiple tumors, mostly leukemia\/ lymphoma, brain, and gastrointestinal cancer in the first two decades. Early recognition of CMMRD may allow tailored surveillance and genetic counseling, also for heterozygote carriers who have Lynch syndrome. We report on five girls with the rare combination of pediatric systemic lupus erythematosus (pSLE) and CMMRD. In all patients, pSLE preceded the onset of malignancy. We discuss unique treatment dilemmas for these patients. pSLE in a young child with NF1 features should prompt testing for CMMRD. (https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/09\/jmedgenet-2019-106303<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive cancer predisposition syndrome, causing caf\u00e9 au lait macules, brain malformations and and multiple tumors, mostly leukemia\/ lymphoma, brain, and gastrointestinal cancer in the first two decades. Early recognition of CMMRD may allow tailored surveillance and genetic counseling, also for heterozygote carriers who have Lynch syndrome. We […]<\/p>\n

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Early recognition of CMMRD may allow tailored surveillance and genetic counseling, also for heterozygote carriers who have Lynch syndrome. 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