Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.
Journal of Allergy and Clinical Immunology
Adolescent; Adult; Aged; B-Lymphocyte Subsets; Biomarkers; Carrier Proteins; Cell Differentiation; Common Variable Immunodeficiency; Exome; Family; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; High-Throughput Nucleotide Sequencing; Humans; Immunoglobulin Isotypes; Immunophenotyping; Male; Middle Aged; Mutation; Nuclear Proteins; Pedigree; Phenotype; T-Lymphocyte Subsets; Young Adult
Keller, M., Pandey, R., Li, D., Glessner, J., Tian, L., & +several additional authors (2016). Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.. Journal of Allergy and Clinical Immunology, 138 (2). http://dx.doi.org/10.1016/j.jaci.2016.01.018