label: Severe Combined Immunodeficiency due to NHEJ1 Deficiency
label_lc: severe combined immunodeficiency due to nhej1 deficiency
description: An autosomal recessive condition caused by mutation(s) in the NHEJ1 gene, encoding non-homologous end-joining factor 1. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Microcephaly, growth retardation, and sensitivity to ionizing radiation are also characteristic of this disease.