Synopsis
immunodeficiency
developmental and growth delay
unusual facial features
microcephaly
pancytopenia
skin anomalies
Differential diagnosis
The clinical phenotype closely resembled the Nijmegen breakage syndrome, a DNA damage response disorder(MIM.251260).
Etiology
mutations in the LIG4 gene (MIM.601837) at 13q22-q34
References
O'Driscoll, M.; Cerosaletti, K. M.; Girard, P.-M.; Dai, Y.; Stumm, M.; Kysela, B.; Hirsch, B.; Gennery, A.; Palmer, S. E.; Seidel, J.; Gatti, R. A.; Varon, R.; Oettinger, M. A.; Neitzel, H.; Jeggo, P. A.; Concannon, P. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molec Cell 8: 1175-1185, 2001. PubMed ID : #11779494#