Variants of Nijmegen breakage syndrome and ataxia telangiectasia.

Article

Variants of Nijmegen breakage syndrome and ataxia telangiectasia.

Immunodeficiency - 1 Jan 1993

Weemaes C M, Smeets D F, Horstink M, Haraldsson A, Bakkeren J A

Abstract excerpt

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by telangiectasia, progressive ataxia, sinopulmonary infections and a combined immunodeficiency (usually consisting of IgA deficiency, IgE deficiency, IgG2 and IgG4 deficiency and a disturbed T cell immunity). The alpha-f...

Topics

Adolescent
Adult
Ataxia Telangiectasia
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 7
Female
Gene Rearrangement
Genetic Variation
Humans
Immunoglobulin M
Male
Radiation Tolerance
Syndrome
T-Lymphocytes
alpha-Fetoproteins

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