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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-fetoprotein level is elevated. Cytogenetic studies reveal a very specific chromosome instability with multiple...

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PMID: 7513225

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