Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).

Autosomal dominant hyper-IgE recurrent infection syndrome-1 (HIES1; 147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). Autosomal recessive HIES2 shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES1 by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see 147060.

Immunodeficiency-101 (varicella zoster virus-specific) (IMD101) is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA. Affected individuals do not have increased susceptibility to other infections. Treatment with acyclovir is effective (Carter-Timofte et al., 2018).