Table 2.

Mutations identified in this study that are inherited as autosomal recessive mutations.

Gene symbol	Locus	Genomic change	Amino acid change	Type of mutation	Effect on protein function
IFNGR2	Chr21	g. 34793786G>A	p.(Thr70-Ser72)	Splice site	Deleterious
KIR2DL4	Chr19	g. 55324674C>CA	p.S267fs	Frameshift causing insertion	Probably benign
SON	Chr21	g.34925531C>G	p.Pro1332Ala	missense	Probably benign