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Items: 4

1.

Purine-nucleoside phosphorylase deficiency

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). [from OMIM]

MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
2.

Combined immunodeficiency due to DOCK8 deficiency

Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. 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). [from OMIM]

MedGen UID:
1648410
Concept ID:
C4722305
Disease or Syndrome
3.

Immunodeficiency 101 (varicella zoster virus-specific)

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). [from OMIM]

MedGen UID:
1810668
Concept ID:
C5676983
Disease or Syndrome
4.

Cerebral vasculitis

Inflammation of the blood vessels within the brain. [from HPO]

MedGen UID:
68652
Concept ID:
C0238051
Disease or Syndrome
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