[Immunologic and cytogenetic aspects of ataxia telangiectasia]. / Immunologische en cytogenetische aspecten van ataxia telangiectasia.
Tijdschr Kindergeneeskd
; 52(4): 164-9, 1984 Aug.
Article
in Nl
| MEDLINE
| ID: mdl-6333737
ABSTRACT
Immunological and cytogenetic studies were performed in 6 patients with ataxia telangiectasia (AT). Immunological disturbances were found in these patients immunoglobulin deficiencies (IgA, IgE, IgG2 and IgG4), decreased cellular immunity and a defect in the synthesis of specific antibodies. Cytogenetic studies revealed chromosome 7 and/or 14 abnormalities in all patients. X-irradiation of AT cells induced an excessive increase in chromosome and chromatid breaks. The DNA synthesis inhibition after X rays was less in AT patients compared to controls. The possibilities of early diagnosis and the eventual relationship between immunological and cytogenetic findings are discussed.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia Telangiectasia
/
Chromosome Aberrations
/
Agammaglobulinemia
Type of study:
Screening_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Nl
Journal:
Tijdschr Kindergeneeskd
Year:
1984
Type:
Article