Case Report: Hypomorphic Ligase 4 deficiency - a paradigm of immunodysregulation.

Abstract excerpt

DNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. Ligase 4 deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA Ligase 4 gene, that can lead to a wide range of phenotypes. We describe a case of Ligase 4 deficiency causing a type of T-B-NK+ atypical SCID, highlighting the clinical and immunologic...

Topics

• Humans
• Female
• DNA Ligase ATP
• Severe Combined Immunodeficiency
• Child
• Mutation