A patient with Constitutional Mismatch Repair Deficiency (CMMRD) may present with pediatric systemic lupus erythematosus (SLE).
Patient selection: pediatric onset of SLE
CMMRD is inherited as a autosomal recessive disorder, so there is often a history of consanguinity in the family.
Features of the pediatric SLE:
(1) predominantly female
(2) early onset (5 years or older)
(3) presentation with fatigue, weakness, polyarthritis, skin rash, etc
(4) positive ANA and anti-dsDNA
Clinical features of CMMRD may include:
(1) neurofibromatosis type 1, with cafe au lait macules
(2) childhood onset of tumors (malignant gliomas, lymphoma, leukemia, intestinal cancer, neuroblastoma, etc)
