NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Lymphopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.010 GeneticVariation disease BEFREE Here we show that the deletion of the entire Nbs1 protein in T-cell precursors (Nbs1(T-del)) results in severe lymphopenia and a hindrance to the double-negative 3 (DN3)-to-DN4 transition in early T-cell development, due to abnormal TCRβ coding and signal joints as well as the functions of Nbs1 in T-cell expansion. 20921278 2010