Candidiasis, familial, 2, autosomal recessive (CARD9 deficiency)
OMIM:607212Mode of inheritance:Autosomal recessive
Disease classification:Certain infectious and parasitic diseases
Mutations
| Gene Symbol | CARD9 |
|---|---|
| Reference transcript | NM_052813.4 |
| DNA Change | c.301C>T |
| A.A. Change | p.Arg101Cys |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Boudghene Stambouli O, Guellil B, Jacobs F, Goffard JC, Schepers K, del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Abel L, Lortholary O, Casanova JL, Picard C, Grimbacher B, Puel A.Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013 Oct 31;369(18):1704-14. |