Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager

Table 3

Whole exome sequencing analysis.

Gene	c-DNA nucleotide change	Genomic location	Protein change	Variant classification	RS number	Disease	Inheritance	Status
IRAK4 (OMIM 606883)	NM_001114182.2: c.823delT, NM_016123.3: c.823delT, NM_001145256.1: c451delT, NM_001145257.1: c451delT, NM_001145258.1: c.451delT (ingenuity)	chr12: g 44171539	p.S275fs13, p.S151fs13 (ingenuity)	Pathogenic (ingenuity)	—	IRAK4 deficiency (OMIM 607676)	Autosomal recessive (AR)	Heterozygous