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severe combined immunodeficiency disease due to NHEJ1 defect
Pathology:
1) increased cellular sensitivity to ionizing radiation
2) defective V(D)J recombination & an impaired DNA-end ligation process
Genetics:
- associated with defect in NHEJ1 gene
Clinical manifestations:
1) microcephaly
2) immunodeficiency
Laboratory:
- lymphopenia, T-cells & B-cells (profound)
Database Correlations
OMIM 102700
References
UniProt :accession Q9H9Q4