Abstract
OBJECTIVES: A pair of female Malay monozygotic twins who presented with recurrent upper respiratory tract infections, hepatosplenomegaly, bronchiectasis and bicytopenia were recruited in this study. Both patients were suspected with primary immunodeficiency diseases. However, the definite diagnosis was not clear due to complex disease phenotypes. The objective of this study was to identify the causative gene mutation in these patients. METHODS: Lymphocyte subset enumeration test and whole exome sequencing were performed. RESULTS: We identified a compound heterozygous CR2 mutation (c.1916G>A and c.2012G>A) in both patients. These variants were then confirmed using Sanger sequencing. CONCLUSION: Whole exome sequencing analysis of the monozygotic twins revealed compound heterozygous missense mutations in CR2.