LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
BACKGROUND: Clinical immunology has traditionally relied on accurate phenotyping of the
patient's immune dysfunction for the identification of a candidate gene or genes for
sequencing and molecular confirmation. Although this is also true for other branches of
medicine, the marked variability in immune-related phenotypes and the highly complex
network of molecules that confer normal host immunity are challenges that clinical
immunologists often face in their quest to establish a specific genetic diagnosis …
patient's immune dysfunction for the identification of a candidate gene or genes for
sequencing and molecular confirmation. Although this is also true for other branches of
medicine, the marked variability in immune-related phenotypes and the highly complex
network of molecules that confer normal host immunity are challenges that clinical
immunologists often face in their quest to establish a specific genetic diagnosis …