CARD9

Gene name: caspase recruitment domain family, member 9
OMIM ID: 607212
Chromosome location: 9q34.3

Mutations

Disease/Phenotype	Candidiasis, familial, 2, autosomal recessive (CARD9 deficiency)
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.

---