LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
The Journal of Allergy and Clinical Immunology, 06/22/2012
Alangari A et al. – The combined exome sequencing and autozygosity mapping approach is a powerful tool in the study of atypical immune dysfunctions. The authors identify LPS–responsive beige–like anchor (LRBA) as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies.