Literature DB >> 3652494

Chromosome studies in IgA-deficient patients.

R D Taalman1, C M Weemaes, T W Hustinx, J M Scheres, J M Clement, G B Stoelinga.   

Abstract

Chromosome analysis was performed in 17 children with IgA-deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was observed. Both patients were mentally retarded and showed distinct congenital defects. From ten asymptomatic patients, spontaneous as well as X-ray-induced chromosome instability was investigated. There was no increased spontaneous instability, and also after irradiation the induced chromosome damage was within normal control levels. A relationship between IgA-deficiency and X-ray hypersensitivity, as might be suggested by the frequently occurring coincidence of radiosensitivity and IgA-deficiency in ataxia telangiectasia patients, is not established.

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Year:  1987        PMID: 3652494     DOI: 10.1111/j.1399-0004.1987.tb03330.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Genetics of IgA deficiency and common variable immunodeficiency.

Authors:  H W Schroeder
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

2.  Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Authors:  C A Smith; D A Driscoll; B S Emanuel; D M McDonald-McGinn; E H Zackai; K E Sullivan
Journal:  Clin Diagn Lab Immunol       Date:  1998-05

3.  Hypogammaglobulinaemia in a patient with ring chromosome 21.

Authors:  S Ohga; F Nakao; O Narazaki; N Fusazaki; T Aoki; K Kamesaki; T Hara
Journal:  Arch Dis Child       Date:  1997-09       Impact factor: 3.791

4.  Increased bleomycin-induced chromosome damage in lymphocytes of patients with common variable immunodeficiency indicates an involvement of chromosomal instability in their cancer predisposition.

Authors:  I Vorechovsky; M Munzarova; J Lokaj
Journal:  Cancer Immunol Immunother       Date:  1989       Impact factor: 6.968

5.  An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

Authors:  Altuğ Koç; Derya Kan; Kadri Karaer; Mehmet A Ergün; Meral Yirmibeş Karaoğuz; Kivilcim Gücüyener; Sophie Hinreiner; Thomas Liehr; E Ferda Perçin
Journal:  Eur J Pediatr       Date:  2007-08-01       Impact factor: 3.183

  5 in total

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