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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
Journal of Allergy and Clinical Immunology, Volume 130, No. 2, Year 2012
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Description
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. © 2012 American Academy of Allergy, Asthma & Immunology.
Authors & Co-Authors
Alangari, Abdullah A.
Saudi Arabia, Riyadh
King Saud University
Alsultan, Abdulrahman
Saudi Arabia, Riyadh
King Saud University
Adly, Nouran
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Massaad, Michel J.
Saudi Arabia, Riyadh
King Saud University
Kiani, Iram Shakir
Saudi Arabia, Riyadh
King Saud University
Aljebreen, Abdulrahman Mohamed
Saudi Arabia, Riyadh
King Saud University
Raddaoui, Emad
Saudi Arabia, Riyadh
King Saud University
Almomen, Abdulkareem M.
Saudi Arabia, Riyadh
King Saud University
Al-Muhsen, Saleh Zaid
Saudi Arabia, Riyadh
King Saud University
Geha, Raif S.
United States, Boston
Boston Children's Hospital
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Saud University
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Statistics
Citations: 229
Authors: 11
Affiliations: 4
Identifiers
Doi:
10.1016/j.jaci.2012.05.043
ISSN:
00916749
e-ISSN:
10976825
Research Areas
Cancer
Genetics And Genomics
Health System And Policy