Chronic mucocutaneous candidiasis disease
OMIM:613953Mode of inheritance:Autosomal recessive
Disease classification:Certain infectious and parasitic diseases
Mutations
| Gene Symbol | IL17RA |
|---|---|
| Reference transcript | NM_014339.6 |
| DNA Change | c.850C>T |
| A.A. Change | p.Gln284X |
| Exon/Intron | exon 9 |
| Mutation Type | substitution |
| Reference | Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL.Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011 Apr 1;332(6025):65-8. |