In a boy (patient 1) with immunodeficiency-33 (IMD33; 300636), Abbott et al. (2014) identified a hemizygous c.337G-A transition in the IKBKG gene, resulting in an asp113-to-asn (D113N) substitution in the first coiled-coil domain. The patient had impaired NK cell function and impaired T-cell receptor signaling with decreased NFKB activity, but Toll-like receptor signaling appeared to be intact. He underwent successful bone marrow transplant. The patient had previously been reported in detail by Salt et al. (2008); his unaffected mother also carried the mutation.
Heller et al. (2020) identified a hemizygous D113N mutation in a boy with IMD33. His mother and grandmother, who were presumably unaffected, carried the heterozygous mutation. However, the proband's 40-year-old male cousin, who did not have recurrent infections and had normal response to polysaccharide antibodies, was hemizygous for D113N. Heller et al. (2020) noted that the allele frequency for this variant is rather high (0.009572), and that some suggest it may be a polymorphism (see Fusco et al., 2004).
