Student or educator? Sign up with your school email and get 6 months of Pro free.
Cited by 134

The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.

Somatic genetic rescue in Mendelian haematopoietic diseases

Revy, Patrick, Kannengiesser, Caroline, Fischer, Alain·2019·Nature Reviews Genetics

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1038/s41576-019-0139-x

Cites

15 of 15 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 15 references

Research works printed but not linked: 167

  1. Laurie, C. C. et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat. Genet. 44, 642–650 (2012). · DOI · Paper page
  2. Osorio, F. G. et al. Somatic mutations reveal lineage relationships and age-related mutagenesis in human hematopoiesis. Cell Rep. 25, 2308–2316 (2018). The studies by Lee-Six et al. and Osorio et al. use ultra-deep sequencing to quantify the rate of somatic mutations accumulating over time in HSCs and circulating blood cells from normal individuals and provide insight into the differentiation pathways of the haematopoietic lineages. · DOI · Paper page
  3. Mufti, G. J. & Marsh, J. C. W. Somatic mutations in aplastic anemia. Hematol. Oncol. Clin. North Am. 32, 595–607 (2018). · DOI
  4. Youssoufian, H. & Pyeritz, R. E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 3, 748–758 (2002). · DOI · Paper page
  5. Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 31, 382–392 (2015). · DOI · Paper page
  6. Wegman-Ostrosky, T. & Savage, S. A. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br. J. Haematol. 177, 526–542 (2017). · DOI
  7. Picard, C. et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J. Clin. Immunol. 38, 96–128 (2018). · DOI · Paper page
  8. Donadieu, J., Beaupain, B., Fenneteau, O. & Bellanne-Chantelot, C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br. J. Haematol. 179, 557–574 (2017). · DOI
  9. Forterre, P. Darwin’s goldmine is still open: variation and selection run the world. Front. Cell. Infect. Microbiol. 2, 106 (2012). · DOI
  10. Hirschhorn, R., Yang, D. R., Israni, A., Huie, M. L. & Ownby, D. R. Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery. Am. J. Hum. Genet. 55, 59–68 (1994). This study is among the first to report SGR leading to a clear-cut cell and clinical correction of an inherited haematopoietic disease.
  11. Hirschhorn, R. et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat. Genet. 13, 290–295 (1996). · DOI · Paper page
  12. Stephan, V. et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 335, 1563–1567 (1996). · DOI · Paper page
  13. Ellis, N. A. et al. Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am. J. Hum. Genet. 57, 1019–1027 (1995).
  14. Foucault, F. et al. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom’s syndrome. Hum. Mol. Genet. 6, 1427–1434 (1997). · doi:10.1093/hmg/6.9.1427
  15. Waisfisz, Q. et al. Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat. Genet. 22, 379–383 (1999). · DOI · Paper page
  16. Lo Ten Foe, J. R. et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur. J. Hum. Genet. 5, 137–148 (1997). · DOI · Paper page
  17. Suzuki, S. et al. Somatic recombination underlies frequent revertant mosaicism in Loricrin keratoderma. Life Sci. Alliance 2, e201800284 (2019). · DOI
  18. Lim, Y. H., Fisher, J. M. & Choate, K. A. Revertant mosaicism in genodermatoses. Cell. Mol. Life Sci. 74, 2229–2238 (2017). · DOI
  19. Burrow, K. L. et al. Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology 41, 661–666 (1991). · DOI
  20. Klein, C. J. et al. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am. J. Hum. Genet. 50, 950–959 (1992).
  21. Fanin, M. et al. Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course. Muscle Nerve 18, 1115–1120 (1995). · DOI
  22. Punetha, J. et al. Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. Eur. J. Hum. Genet. 24, 1511–1514 (2016). · doi:10.1038/ejhg.2016.22
  23. Poudrier, J., Lettre, F., Scriver, C. R., Larochelle, J. & Tanguay, R. M. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol. Genet. Metab. 64, 119–125 (1998). · DOI
  24. Dreumont, N. et al. A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. BMC Genet. 2, 9 (2001). · DOI
  25. Federico, C. et al. Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy. Hum. Genet. 136, 867–873 (2017). · DOI
  26. Scalet, D. et al. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062 + 5G>A mutation and permits U1snRNA-based splicing correction. J. Hum. Genet. 63, 683–686 (2018). · DOI
  27. Ikeda, H. et al. Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2. Cancer Res. 63, 2688–2694 (2003).
  28. Gross, M. et al. Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction. Cytogenet. Genome Res. 98, 126–135 (2002). · DOI · Paper page
  29. George, J. W. et al. Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation. Mol. Cell. Biol. 21, 7355–7365 (2001). · DOI
  30. Bogliolo, M. et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am. J. Hum. Genet. 92, 800–806 (2013). · DOI · Paper page
  31. Kondrashova, O. et al. Secondary somatic mutations restoring RAD51C and RAD51D associated with acquired resistance to the PARP inhibitor rucaparib in high-grade ovarian carcinoma. Cancer Discov. 7, 984–998 (2017). · DOI · Paper page
  32. Quigley, D. et al. Analysis of circulating cell-free DNA identifies multiclonal heterogeneity of BRCA2 reversion mutations associated with resistance to PARP inhibitors. Cancer Discov. 7, 999–1005 (2017). · DOI · Paper page
  33. Dulskas, A. et al. A case of gastric cancer metastasis to the breast in a female with BRCA2 germline mutation and literature review. Acta Chir. Belg. 119, 59–63 (2019). · DOI
  34. Bouwman, P. & Jonkers, J. Molecular pathways: how can BRCA-mutated tumors become resistant to PARP inhibitors? Clin. Cancer Res. 20, 540–547 (2014). · DOI · Paper page
  35. Gillies, R. J., Verduzco, D. & Gatenby, R. A. Evolutionary dynamics of carcinogenesis and why targeted therapy does not work. Nat. Rev. Cancer 12, 487–493 (2012). · DOI · Paper page
  36. Patch, A. M. et al. Whole-genome characterization of chemoresistant ovarian cancer. Nature 521, 489–494 (2015). · DOI · Paper page
  37. Moncada-Velez, M. et al. Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype. Scand. J. Immunol. 74, 471–481 (2011). · doi:10.1111/j.1365-3083.2011.02593.x
  38. Liu, P. et al. Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. Clin. Immunol. 130, 162–174 (2009). · doi:10.1016/j.clim.2008.08.026
  39. Ariga, T. et al. T cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. Blood 97, 2896–2899 (2001). · DOI
  40. Crestani, E. et al. RAG1 reversion mosaicism in a patient with Omenn syndrome. J. Clin. Immunol. 34, 551–554 (2014). · doi:10.1007/s10875-014-0051-2
  41. Brigida, I. et al. T cell defects in patients with ARPC1B germline mutations account for their combined immunodeficiency. Blood 132, 2362–2374 (2018). · DOI
  42. Ellis, N. A., Ciocci, S. & German, J. Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. Hum. Genet. 108, 167–173 (2001). · DOI
  43. Marin, A. V. et al. Primary T cell immunodeficiency with functional revertant somatic mosaicism in CD247. J. Allergy Clin. Immunol. 139, 347–349 (2017). · doi:10.1016/j.jaci.2016.06.020
  44. Stray-Pedersen, A. et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J. Allergy Clin. Immunol. 139, 232–245 (2017). · DOI · Paper page
  45. Perdigones, N. et al. Clonal hematopoiesis in patients with dyskeratosis congenita. Am. J. Hematol. 91, 1227–1233 (2016). · DOI
  46. Jing, H. et al. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype. J. Allergy Clin. Immunol. 133, 1667–1675 (2014). · DOI
  47. Kienzler, A. K. et al. Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE. Clin. Immunol. 163, 17–21 (2016). · DOI
  48. Kuijpers, T. W. et al. A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells. Haematologica 98, 1030–1038 (2013). · DOI
  49. Hsu, A. P. et al. IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype. J. Clin. Immunol. 35, 449–453 (2015). · doi:10.1007/s10875-015-0174-0
  50. Speckmann, C. et al. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. Blood 112, 4090–4097 (2008). · DOI
  51. Kawai, T. et al. Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. J. Clin. Immunol. 32, 690–697 (2012). · DOI
  52. Tone, Y. et al. Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood 109, 1182–1184 (2007). · DOI
  53. Uzel, G. et al. Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). Blood 111, 209–218 (2008). · doi:10.1182/blood-2007-04-082552
  54. Le Guen, T. et al. An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation. J. Allergy Clin. Immunol. 136, 1619–1626 (2015). This report describes the occurrence of SGR in MYSM1 deficiency that leads to a full correction of a disease phenotype at both the cellular and clinical levels. · DOI
  55. Palendira, U. et al. Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein–Barr virus. J. Exp. Med. 209, 913–924 (2012). · DOI
  56. Ariga, T. et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott–Aldrich syndrome. J. Immunol. 166, 5245–5249 (2001). · DOI
  57. Boztug, K. et al. Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott–Aldrich syndrome patient. Haematologica 92, e43–e45 (2007). · DOI
  58. Lutskiy, M. I., Beardsley, D. S., Rosen, F. S. & Remold-O’Donnell, E. Mosaicism of NK cells in a patient with Wiskott–Aldrich syndrome. Blood 106, 2815–2817 (2005). · doi:10.1182/blood-2004-12-4724
  59. Stewart, D. M., Candotti, F. & Nelson, D. L. The phenomenon of spontaneous genetic reversions in the Wiskott–Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4–7, 2006. J. Clin. Immunol. 27, 634–639 (2007). · DOI
  60. Xie, J. W. et al. In vivo reversion of an inherited mutation in a Chinese patient with Wiskott–Aldrich syndrome. Hum. Immunol. 76, 406–413 (2015). · doi:10.1016/j.humimm.2015.04.001
  61. Kalb, R. et al. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am. J. Hum. Genet. 80, 895–910 (2007). · DOI
  62. Davis, B. R. et al. Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott–Aldrich syndrome. Blood 111, 5064–5067 (2008). These authors report up to 34 different SGR events in a single patient with Wiskott–Aldrich syndrome, demonstrating that distinct somatic mutations can accumulate in different clones from the same individual. · doi:10.1182/blood-2007-06-095299
  63. Bluteau, O. et al. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood 131, 717–732 (2018). · DOI · Paper page
  64. Buonocore, F. et al. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J. Clin. Invest. 127, 1700–1713 (2017). This study reports patients with MIRAGE syndrome, caused by germline heterozygous gof mutations in SAMD9, in whom somatic monosomy 7, interstitial 7q deletion or lof mutation in SAMD9 in blood cells represents recurrent SGR that eliminates the deleterious effect of the germline mutation and leads to clinical improvement. · DOI · Paper page
  65. Shima, H. et al. Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations. J. Med. Genet. 55, 81–85 (2018). · doi:10.1136/jmedgenet-2017-105020
  66. Schwartz, J. R. et al. The genomic landscape of pediatric myelodysplastic syndromes. Nat. Commun. 8, 1557 (2017). · DOI · Paper page
  67. Schwartz, J. R. et al. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. Leukemia 31, 1827–1830 (2017). · doi:10.1038/leu.2017.142
  68. Narumi, S. et al. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nat. Genet. 48, 792–797 (2016). · DOI · Paper page
  69. Pastor, V. B. et al. Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. Haematologica 103, 427–437 (2018). · DOI
  70. Wong, J. C. et al. Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. JCI Insight 3, 121086 (2018). · DOI
  71. Tesi, B. et al. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood 129, 2266–2279 (2017). · DOI · Paper page
  72. Chen, D. H. et al. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am. J. Hum. Genet. 98, 1146–1158 (2016). · DOI · Paper page
  73. Wada, T. et al. Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. Blood 112, 1872–1875 (2008). · doi:10.1182/blood-2008-04-149708
  74. Blackburn, E. H., Greider, C. W. & Szostak, J. W. Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat. Med. 12, 1133–1138 (2006). · DOI · Paper page
  75. Maryoung, L. et al. Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J. Clin. Invest. 127, 982–986 (2017). · DOI
  76. Gutierrez-Rodrigues, F. et al. Pathogenic TERT promoter variants in telomere diseases. Genet. Med. https://doi.org/10.1038/s41436-018-0385-x (2018). Maryoung et al. and Guiterrez-Rodrigues et al. describe what are thought to be the first cases of indirect SGR, in which somatic mutations that activate the TERT promoter in blood cells counteract a germline lof mutation in a gene implicated in telomere maintenance (TERC and PARN). · DOI
  77. Heidenreich, B. & Kumar, R. TERT promoter mutations in telomere biology. Mutat. Res. 771, 15–31 (2017). · DOI · Paper page
  78. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959–961 (2013). · DOI · Paper page
  79. Chiba, K. et al. Cancer-associated TERT promoter mutations abrogate telomerase silencing. eLife 4, e07918 (2015). · DOI · Paper page
  80. Wada, T. et al. Somatic mosaicism in Wiskott–Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc. Natl Acad. Sci. USA 98, 8697–8702 (2001). · DOI
  81. Pinto, F. O. et al. Diagnosis of Fanconi anemia in patients with bone marrow failure. Haematologica 94, 487–495 (2009). · DOI
  82. Gregory, J. J. Jr. et al. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc. Natl Acad. Sci. USA 98, 2532–2537 (2001). · DOI · Paper page
  83. Konno, A. et al. Differential contribution of Wiskott–Aldrich syndrome protein to selective advantage in T- and B-cell lineages. Blood 103, 676–678 (2004). · DOI
  84. Alder, J. K. et al. Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. Chest 147, 1361–1368 (2015). · DOI · Paper page
  85. Asur, R. S. et al. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. Mol. Genet. Genom. Med. 6, 77–91 (2018). · DOI
  86. Virts, E. L. et al. AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia. Hum. Mol. Genet. 24, 5093–5108 (2015). · DOI
  87. Nishikomori, R. et al. X-Linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T cell development and/or survival. Blood 103, 4565–4572 (2004). · DOI
  88. Jiang, J. et al. Molecular and immunological characterization of DNA ligase IV deficiency. Clin. Immunol. 163, 75–83 (2016). · DOI
  89. Lapunzina, P. & Monk, D. The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer. Biol. Cell 103, 303–317 (2011). · DOI
  90. Jongmans, M. C. et al. Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am. J. Hum. Genet. 90, 426–433 (2012). These authors report, thought to be for the first time in telomeropathy, the somatic reversion of the TERC mutated allele to wild type through mitotic recombination events in blood cells from four individuals with germline TERC mutations. · DOI
  91. Jongmans, M. C. J. et al. Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia. Haematologica 103, e607–e609 (2018). · doi:10.3324/haematol.2018.200683
  92. Venugopal, P. et al. Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. Haematologica 102, e506–e509 (2017). · doi:10.3324/haematol.2017.166678
  93. Ly, P. & Cleveland, D. W. Rebuilding chromosomes after catastrophe: emerging mechanisms of chromothripsis. Trends Cell Biol. 27, 917–930 (2017). · DOI · Paper page
  94. McDermott, D. H. et al. Chromothriptic cure of WHIM syndrome. Cell 160, 686–699 (2015). The authors report that even dramatic modification of the genome through chromothripsis can restore haematopoiesis by eliminating a dominant deleterious mutation in CXCR4. · DOI · Paper page
  95. Boocock, G. R. et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat. Genet. 33, 97–101 (2003). · DOI · Paper page
  96. Finch, A. J. et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 25, 917–929 (2011). · DOI · Paper page
  97. Weis, F. et al. Mechanism of eIF6 release from the nascent 60S ribosomal subunit. Nat. Struct. Mol. Biol. 22, 914–919 (2015). · DOI · Paper page
  98. Warren, A. J. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome. Adv. Biol. Regul. 67, 109–127 (2018). · DOI · Paper page
  99. Maserati, E. et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes, chromosomes and cancer 45, 375–382 (2006). · doi:10.1002/gcc.20301
  100. Nacci, L. et al. Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene. Genes Chromosomes Cancer 56, 51–58 (2017). · doi:10.1002/gcc.22401
  101. Pressato, B. et al. Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis. Br. J. Haematol. 157, 503–505 (2012). · DOI
  102. Valli, R. et al. Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms. Mol. Cytogenet. 6, 56 (2013). · DOI
  103. Menne, T. F. et al. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat. Genet. 39, 486–495 (2007). · DOI · Paper page
  104. Ceccaldi, R. et al. Spontaneous abrogation of the G(2)DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients. J. Clin. Invest. 121, 184–194 (2011). · DOI
  105. Biesecker, L. G. & Spinner, N. B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 14, 307–320 (2013). · DOI · Paper page
  106. Hofer, T. & Rodewald, H. R. Differentiation-based model of hematopoietic stem cell functions and lineage pathways. Blood 132, 1106–1113 (2018). · DOI
  107. Shpall, E. J., Champlin, R. & Glaspy, J. A. Effect of CD34+ peripheral blood progenitor cell dose on hematopoietic recovery. Biol. Blood Marrow Transplant. 4, 84–92 (1998). · doi:10.1053/bbmt.1998.v4.pm9763111
  108. Wada, T. et al. Second-site mutation in the Wiskott–Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J. Clin. Invest. 111, 1389–1397 (2003). · DOI
  109. Ban, S. A. et al. Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3. J. Clin. Immunol. 34, 941–953 (2014). · DOI
  110. Hoshino, A. et al. Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. J. Allergy Clin. Immunol. 143, 421–424 (2019). · doi:10.1016/j.jaci.2018.07.044
  111. Paul, S., Million-Weaver, S., Chattopadhyay, S., Sokurenko, E. & Merrikh, H. Accelerated gene evolution through replication-transcription conflicts. Nature 495, 512–515 (2013). · DOI
  112. Sankar, T. S., Wastuwidyaningtyas, B. D., Dong, Y., Lewis, S. A. & Wang, J. D. The nature of mutations induced by replication-transcription collisions. Nature 535, 178–181 (2016). · DOI
  113. Gangloff, S. & Arcangioli, B. DNA repair and mutations during quiescence in yeast. FEMS Yeast Res. 17, fox002 (2017). · DOI
  114. Blazquez-Moreno, A. et al. Analysis of the recovery of CD247 expression in a PID patient: insights into the spontaneous repair of defective genes. Blood 130, 1205–1208 (2017). · doi:10.1182/blood-2017-01-762864
  115. Zuniga-Pflucker, J. C. T cell development made simple. Nat. Rev. Immunol. 4, 67–72 (2004). · DOI · Paper page
  116. Klein, L., Kyewski, B., Allen, P. M. & Hogquist, K. A. Positive and negative selection of the T cell repertoire: what thymocytes see (and don’t see). Nat. Rev. Immunol. 14, 377–391 (2014). · DOI · Paper page
  117. Okhrimenko, A. et al. Human memory T cells from the bone marrow are resting and maintain long-lasting systemic memory. Proc. Natl Acad. Sci. USA 111, 9229–9234 (2014). · DOI · Paper page
  118. Bousso, P. et al. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor. Proc. Natl Acad. Sci. USA 97, 274–278 (2000). · DOI
  119. Notarangelo, L. D., Kim, M. S., Walter, J. E. & Lee, Y. N. Human RAG mutations: biochemistry and clinical implications. Nat. Rev. Immunol. 16, 234–246 (2016). · DOI · Paper page
  120. Rawlings, D. J. et al. Mutation of unique region of Bruton’s tyrosine kinase in immunodeficient XID mice. Science 261, 358–361 (1993). · DOI · Paper page
  121. Tsukada, S. et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72, 279–290 (1993). · DOI · Paper page
  122. Okano, T. et al. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. Clin. Immunol. 183, 112–120 (2017). · doi:10.1016/j.clim.2017.08.003
  123. Kobrynski, L. J. & Abramowsky, C. Monoclonal IgA gammopathy due to maternal B cells in an infant with severe combined immunodeficiency (SCID) prior to hematopoietic stem cell transplantation. J. Pediatr. Hematol. Oncol. 28, 53–56 (2006).
  124. Morinishi, Y. et al. Identification of severe combined immunodeficiency by T cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr. 155, 829–833 (2009). · DOI
  125. Lanfranchi, A. et al. Maternal T cell engraftment impedes with diagnosis of a SCID-ADA patient. Clin. Immunol. 193, 118–120 (2018). · doi:10.1016/j.clim.2018.01.004
  126. Wahlstrom, J. et al. Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. J. Allergy Clin. Immunol. 139, 628–633 (2017). · doi:10.1016/j.jaci.2016.04.049
  127. Lev, A. et al. Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency. Clin. Exp. Immunol. 176, 380–386 (2014). · doi:10.1111/cei.12273
  128. Cattaneo, F. et al. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T cell engraftment. J. Allergy Clin. Immunol. 131, 1136–1145 (2013). · DOI
  129. Dvorak, C. C. et al. Maternal T cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency. J. Pediatr. Hematol. Oncol. 30, 396–400 (2008). · doi:10.1097/mph.0b013e318168e7a0
  130. Kellermayer, R. et al. A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency. J. Hum. Genet. 51, 495–497 (2006). · doi:10.1007/s10038-006-0386-5
  131. Muller, S. M. et al. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: a study of 121 patients. Blood 98, 1847–1851 (2001). · DOI · Paper page
  132. Villa, A. et al. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97, 81–88 (2001). · DOI · Paper page
  133. Sottini, A. et al. Engrafted maternal T cells in a severe combined immunodeficiency patient express T cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity. Blood 85, 2105–2113 (1995). · doi:10.1182/blood.v85.8.2105.bloodjournal8582105
  134. Fischer, A., Notarangelo, L. D., Neven, B., Cavazzana, M. & Puck, J. M. Severe combined immunodeficiencies and related disorders. Nat. Rev. Dis. Primers 1, 15061 (2015). · DOI · Paper page
  135. Panchal, N., Booth, C., Cannons, J. L. & Schwartzberg, P. L. X-linked lymphoproliferative disease type 1: a clinical and molecular perspective. Front. Immunol. 9, 666 (2018). · DOI
  136. May, M. Mutations to the rescue. Nat. Med. 17, 405–407 (2011). · DOI
  137. Cavazzana-Calvo, M. et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288, 669–672 (2000). This study reports successful gene therapy of SCID X1 based on the selective advantage provided by wild-type gene integration, which mimics natural revertants. · DOI · Paper page
  138. Aiuti, A. et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296, 2410–2413 (2002). This study reports successful gene therapy of ADA SCID, based on the selective advantage provided by wild-type gene integration, which mimics natural revertants. · DOI · Paper page
  139. Hacein-Bey-Abina, S. et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med. 363, 355–364 (2010). · DOI · Paper page
  140. Clarke, E. L. et al. T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency. Genome Med. 10, 70 (2018). · DOI
  141. Davidsson, J. et al. SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. Leukemia 32, 1106–1115 (2018). · DOI
  142. Inaba, T., Honda, H. & Matsui, H. The enigma of monosomy 7. Blood 131, 2891–2898 (2018). · DOI
  143. Nagamachi, A. et al. Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24, 305–317 (2013). · DOI
  144. Nagata, Y. et al. Germline loss of function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood 132, 2309–2313 (2018). · DOI
  145. Andres-Lencina, J. J. et al. TERT promoter mutation subtypes and survival in stage I and II melanoma patients. Int. J. Cancer 144, 1027–1036 (2019). · DOI
  146. Bojesen, S. E. et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat. Genet. 45, 371–384 (2013). · DOI · Paper page
  147. Heidenreich, B. et al. Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma. Nat. Commun. 5, 3401 (2014). · DOI · Paper page
  148. Heidenreich, B. et al. TERT promoter mutations and telomere length in adult malignant gliomas and recurrences. Oncotarget 6, 10617–10633 (2015). · DOI
  149. Hosen, I. et al. Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer. Int. J. Cancer 137, 1621–1629 (2015). · DOI
  150. Hosen, I. et al. TERT promoter mutations in clear cell renal cell carcinoma. Int. J. Cancer 136, 2448–2452 (2015). · DOI
  151. Huang, D. S. et al. Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation. Eur. J. Cancer 51, 969–976 (2015). · DOI · Paper page
  152. Nagore, E. et al. TERT promoter mutations in melanoma survival. Int. J. Cancer 139, 75–84 (2016). · DOI
  153. Rachakonda, P. S. et al. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc. Natl Acad. Sci. USA 110, 17426–17431 (2013). · DOI · Paper page
  154. Rachakonda, S. et al. Telomere length, telomerase reverse transcriptase promoter mutations, and melanoma risk. Genes Chromosomes Cancer 57, 564–572 (2018). · DOI
  155. Simon, M. et al. TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. Neuro-oncology 17, 45–52 (2015). · DOI · Paper page
  156. Aiuti, A. et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott–Aldrich syndrome. Science 341, 1233151 (2013). · DOI · Paper page
  157. Min, Y. L. et al. CRISPR–Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells. Sci. Adv. 5, eaav4324 (2019). · DOI · Paper page
  158. Min, Y. L., Bassel-Duby, R. & Olson, E. N. CRISPR correction of duchenne muscular dystrophy. Annu. Rev. Med. 70, 239–255 (2019). · DOI · Paper page
  159. Zafra, M. P. et al. Optimized base editors enable efficient editing in cells, organoids and mice. Nat. Biotechnol. 36, 888–893 (2018). · DOI · Paper page
  160. Issa, J. P. Epigenetic variation and cellular Darwinism. Nat. Genet. 43, 724–726 (2011). · DOI
  161. Jacobsen, S. E. W. & Nerlov, C. Haematopoiesis in the era of advanced single-cell technologies. Nat. Cell Biol. 21, 2–8 (2019). This review describes the unanticipated plasticity and heterogeneity of HSCs. · DOI
  162. Arredondo-Vega, F. X. et al. Adenosine deaminase deficiency with mosaicism for a ‘second-site suppressor’ of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood 99, 1005–1013 (2002). · DOI
  163. Rieux-Laucat, F. et al. Inherited and somatic CD3ζ mutations in a patient with T cell deficiency. N. Engl. J. Med. 354, 1913–1921 (2006). · DOI
  164. Fuchs, S. et al. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Blood 126, 1658–1669 (2015). · DOI
  165. Wada, T. et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood 106, 2099–2101 (2005). This study demonstrates that SGR can lead to deleterious consequences by generating pathogenic T lymphocytes and by causing Omenn syndrome. · doi:10.1182/blood-2005-03-0936
  166. Crescenzi, B. et al. Totipotent stem cells bearing del(20q) maintain multipotential differentiation in Shwachman Diamond syndrome. Br. J. Haematol. 144, 116–119 (2009). · doi:10.1111/j.1365-2141.2008.07448.x
  167. Ariga, T., Yamada, M., Sakiyama, Y. & Tatsuzawa, O. A case of Wiskott–Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient’s peripheral blood lymphocytes. Blood 92, 699–701 (1998). · DOI

Cited by

See all 134

Metadata

Authors
Revy, P., Kannengiesser, C., & Fischer, A.
Venue
Nature Reviews Genetics
Published
2019-06-11
Volume
20
Issue
10
Pages
582-598
ISSN
  • 1471-0056
  • 1471-0064
Cited by
134
References
15
Language
en
Licence

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Somatic genetic rescue in Mendelian haematopoietic diseases. https://app.cochat.ai/papers/10.1038/s41576-019-0139-x
The paper
Revy, P., Kannengiesser, C., & Fischer, A. (2019). Somatic genetic rescue in Mendelian haematopoietic diseases. Nature Reviews Genetics. https://doi.org/10.1038/s41576-019-0139-x

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.