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

Helen Toledano, Naama Orenstein, Efrat Sofrin, Noa Ruhrman-Shahar, Gil Amarilyo, Lina Basel-Salmon, Alan R. Shuldiner, Pola Smirin-Yosef, Melyssa Aronson, Hibs Al-Tarrah, Lili Bazak, Claudia Gonzaga-Jauregui, Uri Tabori, Katharina Wimmer, Yael Goldberg

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish
Pages (from-to)505-508
Number of pages4
JournalJournal of Medical Genetics
Issue number7
StatePublished - 1 Jul 2020
Externally publishedYes

Bibliographical note

Publisher Copyright:
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.


  • Lynch
  • MSH6
  • SLE


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