case_images: PMC6925566_01
case_images: Mutation analysis of the patient and parents
case_images: CEJI-44-89613-g001.jpg
case_images: PMC6925566_01_CEJI-44-89613-g001.jpg
case_images: f0001
case_images: A homozygote mutation (c.1964C>T) in LRBA was found through exome sequencing (Fig. 1). This mutation results in an immediate stop-gain at the amino acid position p.R655* (Fig. 1).
case_images: PMC6925566_02
case_images: Multiple gallstones of the patient
case_images: CEJI-44-89613-g002.jpg
case_images: PMC6925566_02_CEJI-44-89613-g002.jpg
case_images: f0002
case_images: Abdominal pain improved after a cholecystectomy (Fig. 2).