Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725]
Description
LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome (NBS), and is characterized by microcephaly, characteristic facial features, growth retardation, developmental delay, and immunodeficiency.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H02015 LIG4 syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06506 Double-strand break repair
H02015 LIG4 syndrome