Constitutional Mismatch Repair Deficiency Syndrome in a patient from India.

ABSTRACT: This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein electrophoresis interpretation.

SUBMITTER: Paul C 

PROVIDER: S-EPMC7752390 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature