1. Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
- Author
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Melyssa Aronson, Helen Toledano, Lili Bazak, Efrat Sofrin, Gil Amarilyo, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noa Ruhrman-Shahar, Katharina Wimmer, Lina Basel-Salmon, Naama Orenstein, Hibs Al-tarrah, Pola Smirin-Yosef, Yael Goldberg, and Uri Tabori
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Neurofibromatosis 1 ,Childhood cancer ,MLH1 ,DNA Mismatch Repair ,Pediatrics ,03 medical and health sciences ,0302 clinical medicine ,Neoplastic Syndromes, Hereditary ,Genetics ,PMS2 ,Humans ,Lupus Erythematosus, Systemic ,Medicine ,Neurofibromatosis ,Child ,Genetics (clinical) ,Brain Neoplasms ,business.industry ,medicine.disease ,Dermatology ,DNA-Binding Proteins ,MSH6 ,Phenotype ,030104 developmental biology ,MSH2 ,Child, Preschool ,030220 oncology & carcinogenesis ,Mutation ,MISMATCH REPAIR DEFICIENCY ,Female ,DNA mismatch repair ,Colorectal Neoplasms ,business - Abstract
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 reported so far in three patients with CMMRD, it has not been considered a diagnostic feature of the syndrome. We report here two additional female patients with pSLE and CMMRD due to biallelic pathogenic variants in MSH6. Hence, there are a total of five out of approximately 200 (2.5%) currently reported patients with CMMRD that also have pSLE, suggesting pSLE should raise the suspicion of a diagnosis of CMMRD, especially if supported by additional indicative features
- Published
- 2019
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