Table 1.

Human DNA repair deficiencies include a broad spectrum of diseases that require specific diagnostic approaches

Inborn errors of DNA stability and repair may result in immunodeficiency, bone marrow failure, and susceptibility to cancer. This table provides an overview of these rare genetic diseases, their common clinical presentation, and suitable diagnostic approaches

SCID, severe combined immunodeficiency; DDR, DNA damage response; IR, ionizing radiation; MMC, mitomycin C; SCE, sister chromatid exchange; BMF, bone marrow failure; DEB, diepoxybutane; ICF, immunodeficiency, centromere instability, facial anomalies; SHM, somatic hypermutation; MSI, microsatellite instability; IF, immunofluorescence; ALPS, autoimmune lymphoproliferative syndrome