[1]
|
Bosticardo M, Yamazaki Y, Cowan J, et al. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis[J]. Am J Hum Genet, 2019, 105: 549-561. doi: 10.1016/j.ajhg.2019.07.014 |
[2]
|
Adriani M, Martinez-Mir A, Fusco F, et al. Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population[J]. Ann Hum Genet, 2004, 68: 265-268. doi: 10.1046/j.1529-8817.2004.00091.x |
[3]
|
Auricchio L, Adriani M, Frank J, et al. Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXN1 (WHN) gene[J]. Arch Dermatol, 2005, 141: 647-648. |
[4]
|
Du Q, Huynh LK, Coskun F, et al. FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans[J]. J Clin Invest, 2019, 129: 4724-4738. doi: 10.1172/JCI127565 |
[5]
|
Giardino G, Sharapova SO, Ciznar P, et al. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Muta-tions[J]. J Clin Immunol, 2021, 41: 756-768. doi: 10.1007/s10875-021-00967-y |
[6]
|
Flanagan SP. 'Nude', a new hairless gene with pleiotropic effects in the mouse[J]. Genet Res, 1966, 8: 295-309. doi: 10.1017/S0016672300010168 |
[7]
|
Nehls M, Pfeifer D, Schorpp M, et al. New member of the winged-helix protein family disrupted in mouse and rat nude mutations[J]. Nature, 1994, 372: 103-107. doi: 10.1038/372103a0 |
[8]
|
Pignata C, Fiore M, Guzzetta V, et al. Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs[J]. Am J Med Genet, 1996, 65: 167-170. doi: 10.1002/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O |
[9]
|
Markert ML, Marques JG, Neven B, et al. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases[J]. Blood, 2011, 117: 688-696. doi: 10.1182/blood-2010-06-292490 |
[10]
|
Firtina S, Cipe F, Ng YY, et al. A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency[J]. J Clin Immunol, 2019, 39: 144-147. doi: 10.1007/s10875-019-00615-6 |
[11]
|
Chou J, Massaad MJ, Wakim RH, et al. A novel mutation in FOXN1 resulting in SCID: a case report and literature review[J]. Clin Immunol, 2014, 155: 30-32. doi: 10.1016/j.clim.2014.08.005 |
[12]
|
Albuquerque AS, Marques JG, Silva SL, et al. Human FOXN1-deficiency is associated with alphabeta double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation[J]. PLoS One, 2012, 7: e37042. doi: 10.1371/journal.pone.0037042 |
[13]
|
Radha RDA, Panday NN, Naushad SM. FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis[J]. Gene, 2017, 627: 222-225. doi: 10.1016/j.gene.2017.06.033 |
[14]
|
Albar R, Mahdi M, Alkeraithe F, et al. Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency[J]. BMJ Case Rep, 2019, 12: e227715. doi: 10.1136/bcr-2018-227715 |
[15]
|
Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee[J]. J Clin Immunol, 2020, 40: 24-64. doi: 10.1007/s10875-019-00737-x |
[16]
|
Schorpp M, Hofmann M, Dear TN, et al. Characterization of mouse and human nude genes[J]. Immunogenetics, 1997, 46: 509-515. doi: 10.1007/s002510050312 |
[17]
|
Schuddekopf K, Schorpp M, Boehm T. The whn transcrip-tion factor encoded by the nude locus contains an evolutionarily conserved and functionally indispensable activation domain[J]. Proc Natl Acad Sci U S A, 1996, 93: 9661-9664. doi: 10.1073/pnas.93.18.9661 |
[18]
|
Žuklys S, Handel A, Zhanybekova S, et al. Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells[J]. Nat Immunol, 2016, 17: 1206. doi: 10.1038/ni.3537 |
[19]
|
Vigliano I, Gorrese M, Fusco A, et al. FOXN1 mutation abrogates prenatal T-cell development in humans[J]. J Med Genet, 2011, 48: 413-416. doi: 10.1136/jmg.2011.089532 |
[20]
|
Vaidya HJ, Briones LA, Blackburn CC. FOXN1 in thymus organogenesis and development[J]. Eur J Immunol, 2016, 46: 1826-1837. doi: 10.1002/eji.201545814 |
[21]
|
Nowell CS, Bredenkamp N, Tetelin S, et al. Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence[J]. PLoS Genet, 2011, 7: e1002348. doi: 10.1371/journal.pgen.1002348 |
[22]
|
Chen L, Xiao S, Manley NR. Foxn1 is required to maintain the postnatal thymic microenvironment in a dosage-sensitive manner[J]. Blood, 2009, 113: 567-574. doi: 10.1182/blood-2008-05-156265 |
[23]
|
Cheng L, Guo J, Sun L, et al. Postnatal tissue-specific disruption of transcription factor FoxN1 triggers acute thymic atrophy[J]. J Biol Chem, 2010, 285: 5836-5847. doi: 10.1074/jbc.M109.072124 |
[24]
|
Larsen BM, Cowan JE, Wang Y, et al. Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells[J]. J Immunol, 2019, 203: 686-695. doi: 10.4049/jimmunol.1801540 |
[25]
|
Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases[J]. J Allergy Clin Immunol, 2004, 113: 734-741. doi: 10.1016/j.jaci.2004.01.766 |
[26]
|
Zampieri M, Ciccarone F, Calabrese R, et al. Reconfiguration of DNA methylation in aging[J]. Mech Ageing Dev, 2015, 151: 60-70. doi: 10.1016/j.mad.2015.02.002 |
[27]
|
Pignata C, Gaetaniello L, Masci AM, et al. Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation[J]. Blood, 2001, 97: 880-885. doi: 10.1182/blood.V97.4.880 |