Abstract
Centromeric instability of chromosomes 1, 9, and 16 has been described in eight patients with variable immunodeficiency. Although the pathogenetic relationship of these cytogenetic abnormalities with the clinical symptoms are unclear, it has nevertheless been proposed that they are a hallmark of this syndrome. Based on the clinical, immunological and cytogenetic data from the literature, a model is presented suggesting that the cytogenetic changes are not causatively involved in the immunodeficiency syndrome, but result from specific virus infections occurring as a consequence of the immunodeficiency in genetically predisposed individuals.
MeSH Terms
Centromere
Chromosome Aberrations/etiology
Chromosome Disorders
Chromosome Fragility
Chromosomes
Chromosomes, Human, Pair 1/analysis
Chromosomes, Human, Pair 16/analysis
Chromosomes, Human, Pair 9/analysis
DNA Damage
Heterochromatin/analysis
Humans
Immunologic Deficiency Syndromes/etiology,genetics
Virus Diseases/complications
Chemicals
Heterochromatin
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Haas O A
Forschungsinstitut für krebskranke Kinder, St. Anna Kinderspital, Wien, Austria.
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