期刊
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 130, 期 2, 页码 481-+出版社
MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2012.05.043
关键词
LPS-responsive beige-like anchor (LRBA); chronic diarrhea; common variable immunodeficiency; autoimmunity
资金
- KFSHRC
- National Institutes of Health [AI-076210, AI094017]
- Perkin-Elmer Foundation
- Dubai-Harvard Foundation for Medical Research
- Research Center at King Faisal Specialist Hospital & Research Centre
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. Objective: We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency. Methods: We performed exome sequencing followed by autozygome filtration. Results: A truncating mutation in LPS-responsive beige-like anchor (LRBA), which abolished protein expression, was identified as the most likely candidate variant in this family. Conclusion: The combined exome sequencing and autozygosity mapping approach is a powerful tool in the study of atypical immune dysfunctions. We identify LRBA as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies. (J Allergy Clin Immunol 2012; 130:481-8.)
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