Immunodeficiency, common variable, 6
OMIM:613496Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | CD81 |
|---|---|
| Reference transcript | NM_004356.3 |
| DNA Change | c.561+1G>A |
| A.A. Change | Frameshift |
| Exon/Intron | intron 6 |
| Mutation Type | substitution |
| Reference | van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F, Ferster A, Kuo CC, Levy S, van Dongen JJ, van der Burg M.CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010 Apr;120(4):1265-74. |