[1] Punwani D, Zhang Y, Yu J, et al. Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B[J]. N Engl J Med, 2016, 375(22): 2165-2176. [2] Lessel D, Gehbauer C, Bramswig NC, et al.BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells[J]. Brain, 2018, 141(8): 2299-2311. [3] Qiao F, Wang C, Luo C, et al. A de novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing[J]. Mol Genet Genomic Med, 2019, 7(9): e897. [4] Prasad M, Balci TB, Prasad C, et al.BCL11B-related disorder in two canadian children: Expanding the clinical phenotype[J]. Eur J Med Genet, 2020, 63(9): 104007. [5] Che F, Tie X, Lei H, et al. Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders[J]. Front Mol Neurosci, 2022, 15: 927357. [6] Yu Y, Jia X, Yin H, et al. A novel variant in BCL11B in an individual with neurodevelopmental delay:A case report[J]. Mol Genet Genomic Med, 2023, 11(4): e2132. [7] 阎诗. 反复发热伴MEFV基因变异10例临床与基因分析及BCL11B基因突变致神经系统发育异常患儿一例并文献复习[D].重庆:重庆医科大学, 2020. [8] Roa-Bautista A, López-Duarte M, Paz-Gandiaga N, et al. Deletion in the BCL11B gene and intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities - a case report[J]. EJIFCC, 2022, 33(4): 325-333. [9] Zhao X,Wu B,Chen H,et al.Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay[J]. Front Pediatr,2022(10):982361. [10] Yang S, Kang Q, Hou Y, et al. Mutant BCL11B in a patient with a neurodevelopmental disorder and T-cell abnormalities[J]. Front Pediatr, 2020(8): 544894. [11] Daher MT, Bausero P, Agbulut O, et al. BCL11B/CTIP2 in skin, tooth, and craniofacial system[J]. Front Cell Dev Biol, 2020(8): 581674. [12] García-Aznar JM, Alonso Alvarez S, Bernal Del Castillo T. Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: A review of the BCL11B-associated phenotypes from the genetic perspective[J]. Genes Immun, 2024,25(3):232-241. [13] Lim YS, Lee DY, Kim HY, et al. Descriptive and functional characterization of epidermal growth factor-like domain 8 in mouse cortical thymic epithelial cells by integrated analysis of gene expression signatures and networks[J].Asp Mol Med, 2021(3): 47. [14] Matsumoto K, Okuyama K, Sidwell T, et al. ABCL11BN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice[J]. Front Immunol, 2024(15): 1363704. [15] Drashansky TT, Helm E, Huo Z, et al.BCL11B prevents fatal autoimmunity by promoting Treg cell program and constraining innate lineages in Treg cells[J]. Sci Adv,2019,5(8):eaaw0480.doi: 10.1126/sciadv.aaw0480. [16] Du H, Wang Z, Guo R, et al.Transcription factors BCL11A and BCL11B are required for the production and differentiation of cortical projection neurons[J]. Cereb Cortex, 2022, 32(17): 3611-3632. [17] Daher MT, Bausero P, Agbulut O, et al.BCL11B/Ctip2 in skin, tooth, and craniofacial system[J]. Front Cell Dev Biol, 2020(8): 581674. [18] Gutierrez A,Kentsis A,Sanda T,et al.TheBCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia[J].Blood,2011,118(15):4169-4173. [19] Harrer P, Leppmeier V, Berger A, et al.A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype(Prasad et al, 2020)."[J]. Eur J Med Genet, 2022,65(11):104635. [20] Berglund A, Stochholm K, Gravholt CH. Morbidity in 47,XYY syndrome:A nationwide epidemiological study of hospital diagnoses and medication use[J]. Genet Med, 2020, 22(9): 1542-1551. [21] Tartaglia N, Howell S, Davis S, et al. Early neurodevelopmental and medicalprofile in children with sex chromosome trisomies: Background for the prospective extraordinary babies study to identify early risk factors and targets for intervention[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 428-443. |