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Exposure to mutagenic sources such as ionizing radiation or chemical agents leads to damage of the genome, however, DNA double-strand breaks (DSB) and the subsequent repair machinery pose a basic necessity for a functional immune response. Two pathways restore genomic integrity. Non-homologous end-joining (NHEJ) is error-prone and leads to T-cell receptor (TCR) and immunoglobulin diversity; defects in the NHEJ process result in severe combined immunodeficiency, radiosensitivity and developmental errors. On the other hand, homologous recombination (HR) conveys a high-fidelity process. It is restricted to the S and Gap 2 (G2) phase as a homologous “sister chromatid” template is required. HR is vital in providing repair to DSB and DNA interstrand crosslinks (ICL). ICL are toxic DNA lesions preventing the separation of the two complementary double helix strands. Chemotherapeutic agents, such as mitomycin C (MMC), nitrogen mustards and platinum compounds, can induce irreversible covalent linkage. Fanconi anemia (FA) is an autosomal recessive disorder, caused due to a mutation in one of at least 18 genes, leading to bone marrow failure, developmental delay and an increased incidence of malignancies. The inability to repair ICL is a key feature of all FA genes. BRCA2 (FANCD1) and other genes involved in breast and ovarian cancer also show regulation of ICL repair. We report on an 18-year-old man with profound combined immunodeficiency, Epstein-Barr virus (EBV) lymphoproliferative disease and chemosensitivity similar to FA patients, and a missense mutation in the RAD52 gene. While RAD51 and its paralogs RAD51C, BRCA1, BRCA2 and PALB2 have been associated with FA and DNA damage repair; the precise function of RAD52 in the recombination process is still unclear. We suspect a modification in the single-stranded (ss)DNA annealing function of the protein and hence a disturbed homologous recombina-

Human RAD52 – a novel player in DNA repair in cancer and immunodeficiency