severe combined immunodeficiency disease due to NHEJ1 defect

Pathology

• increased cellular sensitivity to ionizing radiation
• defective V(D)J recombination & an impaired DNA-end ligation process

Genetics

• associated with defect in NHEJ1 gene

Clinical manifestations

• microcephaly
• immunodeficiency

Laboratory

• lymphopenia, T-cells & B-cells (profound)

More general terms

• combined immune deficiency

Additional terms

• non-homologous end-joining factor 1 (protein Cernunnos, XRCC4-like factor, NHEJ1, XLF)

Database

• OMIM: https://mirror.omim.org/entry/102700