RT Journal Article
SR Electronic
T1 Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 505
OP 508
DO 10.1136/jmedgenet-2019-106303
VO 57
IS 7
A1 Toledano, Helen
A1 Orenstein, Naama
A1 Sofrin, Efrat
A1 Ruhrman-Shahar, Noa
A1 Amarilyo, Gil
A1 Basel-Salmon, Lina
A1 Shuldiner, Alan R
A1 Smirin-Yosef, Pola
A1 Aronson, Melyssa
A1 Al-tarrah, Hibs
A1 Bazak, Lili
A1 Gonzaga-Jauregui, Claudia
A1 Tabori, Uri
A1 Wimmer, Katharina
A1 Goldberg, Yael
YR 2020
UL http://jmg.bmj.com/content/57/7/505.abstract
AB 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