共 74 条
[1]
Tangye SG(2022)Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee J Clin Immunol 24 1-35
[2]
Al-Herz W(2021)The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee J Clin Immunol 41 666-679
[3]
Bousfiha A(2020)The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity? Hum Genet 139 681-694
[4]
Tangye SG(2014)A general framework for estimating the relative pathogenicity of human genetic variants Nat Genet 46 310-315
[5]
Al-Herz W(2016)The mutation significance cutoff: gene-level thresholds for variant predictions Nat Methods 13 109-110
[6]
Bousfiha A(2019)Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis Nat Med 25 1873-1884
[7]
Casanova JL(2020)Human T-bet governs innate and innate-like adaptive IFN-γ immunity against mycobacteria Cell 183 1826-1847.e31
[8]
Abel L(2018)Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency Nat Immunol 19 973-985
[9]
Kircher M(2015)Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome J Exp Med 212 1641-1662
[10]
Witten DM(2016)Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations J Exp Med 213 2413-2435