Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

IRF8

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.9970A>G CDS: c.322A>G AnimoAcid: p.Lys108Glu	Substitutions	Direct sequencing, PCR based assay	Hambleton S et al., 2011
2	Substitutions	Genomic: g.9886A>G CDS: c.238A>G AnimoAcid: p.Thr80Ala	Substitutions	Direct sequencing, PCR based assay	Hambleton S et al., 2011