See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Fusco et al [2008]

Three of 18 males with IP with somatic mosaicism for the common 11.7-kb deletion [Fusco et al 2007]

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Fusco et al [2017] reported a male with IP with somatic mosaicism for the c.394C>T pathogenic variant. Chang et al [2008] reported a male with the pathogenic variant c.1167dupC (also known as 1167insC); he is the only male known to have both HED-ID (hypohidrotic ectodermal dysplasia and immunodeficiency) and the skin findings of IP (see Genetically Related Disorders).

Gene-targeted deletion/duplication analysis detects locus-specific deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, and Southern blotting. Assay designs must account for presence of the IKBKG pseudogene.

Quantitative PCR analysis of IKBKG locus to evaluate partial copy number loss or copy number gain along the locus revealed pathogenic variants due to aberrant recombination in the locus producing deletions involving IKBKG, the IKBKG pseudogene, and eventually the neighboring gene G6PD [Fusco et al 2012, Conte et al 2014].

Although no evidence of additional loci causing IP has been reported, there remain 4.7% of individuals with IP who have no pathogenic variant in the IKBKG locus assigned. For them locus heterogeneity cannot be excluded [Fusco et al 2014].