Case Reports in Immunology / 2020 / Article / Tab 3

Case Report

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

Table 3

Whole exome sequencing analysis.

Genec-DNA nucleotide changeGenomic locationProtein changeVariant classificationRS numberDiseaseInheritanceStatus

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 44171539p.S275fs13, p.S151fs13 (ingenuity)Pathogenic (ingenuity)IRAK4 deficiency (OMIM 607676)Autosomal recessive (AR)Heterozygous

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