Chromosomal Breakage Syndromes Associated with Immunodeficiency

Reyhan GÜMÜŞBURUNa , Ömür ARDENİZa
aEge University Faculty of Medicine, Department of Pulmonary Medicine, Division of Immunology and Allergy Diseases, İzmir, Türkiye

Gümüşburun R, Ardeniz Ö. Chromosomal breakage syndromes associated with immunodeficiency. Çölkesen F, ed. Primary Immunodeficiency Diseases in Adults. 1st ed. Ankara: Türkiye Klinikleri; 2024. p.67-74.

ABSTRACT
Chromosome instability syndromes are characterized by high rates of chromosomal breaks and failure to maintain genomic integrity due to mutations in genes encoding enzymes required for DNA repair. These patients have varying degrees of immunodeficiency, cancer, neurodegeneration, developmental abnormalities, and premature aging. In this review, the relationship between DNA damage and repair mechanisms and the immune system, and some well-known DNA repair pathway defects are discussed. In addition, some important issues that should be considered in the treatment approach in these cases are also discussed. DNA pathway repair defects may present as severe combined immunodeficiency (SCID), and early bone marrow transplantation is essential in these cases. Because of the high morbidity and mortality rates for transplantation in a group of DNA repair defects, it is essential to apply newborn screening programs and to modify the pre-transplant preparation regimens due to radiochemosensitivity.

Keywords: Chromosome instability syndromes; immunodeficiencies; DNA repair disorders; ataxia-telangiectasia; Nijmegen Breakage syndrome; Bloom syndrome; Fanconi anemia

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