Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
Rucci F, Notarangelo L, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley K, Detre C, Keszei M, Walter J, Feldman L, Cheng H, Poliani P, Wang J, Balter B, Recher M, Andersson E, Zha S, Giliani S, Terhorst C, Alt F, Yan C. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 3024-3029. PMID: 20133615, PMCID: PMC2840307, DOI: 10.1073/pnas.0914865107.Peer-Reviewed Original ResearchConceptsLIG4 mutationsGrowth retardationPeripheral T lymphocytesLIG4 syndromeLow-affinity antibodiesLeaky SCIDHomozygous mutant miceAnergic phenotypeHigh-affinity antibodiesT lymphocytesMouse modelB cell developmentMutant miceDevelopmental delayDecreased life spanTumor developmentFacial dysmorphismLymphocyte developmentMiceAutoreactive specificitiesNonhomologous end-joining repair pathwaySyndromeHigh rateSCIDVariable degrees