Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2017; 16: 75-83
Синдром Кабуки
https://doi.org/10.24287/1726-1708-2017-16-4-75-83Аннотация
Список литературы
1. Niikawa N., Matsuura N., Fukushima Y., Ohsawa T., Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565-9.
2. Kuroki Y., Suzuki Y., Chyo H., Hata A., Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570-3.
3. Ng S.B., Bigham A.W., Buckingham K.J., Hannibal M.C., McMillin M.J., Gildersleeve H.I., et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790-3.
4. Lederer D., Grisart B., Digilio M.C., Benoit V., Crespin M., Ghariani S.C., et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. AJHG 2012; 90: 119-24.
5. Miyake N., Mizuno S., Okamoto N., Ohashi H., Shiina M., Ogata K., et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013; 34: 108-10.
6. Lederer D., Shears D., Benoit V., Verellen-Dumoulin C., Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A 2014; 164A: 1289-92.
7. Banka S., Lederer D., Benoit V., Jenkins E., Howard E., Bunstone S., et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet 2015; 87: 252-8.
8. Stagi S., Gulino A.V., Lapi E., Rigante D. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res 2016; 64: 345-59.
9. Banka S., Veeramachaneni R., Reardon W., Howard E., Bunstone S., Ragge N., et al. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. EJHG 2012; 20: 381-8.
10. Shah M., Bogucki B., Mavers M. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. BMC Med Genet 2005 Jul 25; 6: 28.
11. Moral S., Zuccarino F., Loma-Osorio P. Double Aortic Arch: An Unreported Anomaly with Kabuki Syndrome. PediatrCardiol 2008; 30: 82-4.
12. Shahdadpuri R., Lynch S.A., Murchan H., McMahon C.J. A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage. PediatrCardiol 2008; 29: 820-2.
13. Bögershausen N., Wollnik B. Unmasking Kabuki syndrome. Clin Genet 2013; 83: 201-1.
14. Cheon C.-K., Ko J.M. Kabuki syndrome: Clinical and molecular characteristics. Korean J Pediatr 2015; 58: 317-24.
15. Stagi S., Gulino A.V., Lapi E., Rigante D. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res 2016; 64: 345-59.
16. Schulz Y., Freese L., Mänz J., Zoll B., Völter C., Brockmann K., et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet 2014 Aug 15; 23 (16): 4396-405.
17. Patel N., Alkuraya F.S. Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A 2015 Jan; 167A (1): 259-60.
18. Butcher D.T., Cytrynbaum C., Turinsky A.L., Siu M.T., Inbar-Feigenberg M., Mendoza-Londono R., et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet 2017 May 4; 100 (5): 773-88.
19. Kouzarides T. Chromatin modifications and their function. Cell 2007; 128: 693-705.
20. Wei G., Wei L., Zhu J., Zang C., Hu-Li J., Yao Z., et al. Global mapping of H3K4me3 and H3K27me3 reveals specificity andplasticity in lineage fate determination of differentiating CD4+T cells. Immunity 2009; 30: 155-67.
21. Eissenberg J.C., Shilatifard A. Histone H3 Lysine 4 (H3K4) methylation in development and differentiation. Dev Biol 2010; 339: 240-9.
22. Venkatesh S., Workman J.L. Histone exchange, chromatin structure and the regulation of transcription. Nat Rev Mol Cell Biol 2015; 16: 178-89.
23. Zhu J., Paul W.E. CD4 T cells: fates, functions, and faults. Blood 2008; 112: 1557-69.
24. Mhanni A.A., Chudley A.E. Genetic landmarks through philately - Kabuki theater and Kabuki syndrome. Clin Genet 1999; 56: 116-7.
25. Wessels M.W., Brooks A.S., Hoogeboom J., Niermeijer M.F., Willems P.J. Kabuki syndrome: a review study ofthree hundred patients. Clinical Dysmorphology 2002; 11: 95-102.
26. Digilio M.C., Marino B., Toscano A., Giannotti A., Dallapiccola B. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269-74.
27. McGaughran J.M., Donnai D., Clayton-Smith J. Biliary atresia in Kabuki syndrome. Am J Med Genet 2000; 91: 157-8.
28. Niikawa N., Kuroki Y., Kajii T., Matsuura N., Ishikiriyama S., Tonokim H., et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988, 31: 565-89.
29. Devriendt K., Lemli L., Craen M., de Zegher F. Growth hormone deficiency and premature thelarche in a female infant with Kabuki makeup syndrome. Horm Res 1995; 43: 303-6.
30. Kawame H., Hannibal M.C., Hudgins L., Pagon R.A. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999; 134: 480-5.
31. De Dios J.A., Javaid A.A., Ballesteros E., Metersky M.L. An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. Conn Med 2012 Jan; 76 (1): 15-8.
32. Chrzanowska K.H., Krajewska-Walasek M., Kuś J., Michalkie-wicz J., Maziarka D., Wolski J.K., et al. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 1998 Apr; 53 (4): 308-12.
33. Miyake N., Koshimizu E., Okamoto N., Mizuno S., Ogata T., Nagai T., et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013; 161A: 2234-43.
34. Frans G., Meyts I., Devriendt K., Liston A., Vermeulen F., Bossuyt X. Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. Am J Med Genet A 2016 Mar; 170 (3): 801-3.
35. Lin J.L., Lee W.I., Huang J.L., Chen P. K-T., Chan K.C., Lo L.J., et al. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Clin Genet 2015 Sep; 88 (3): 255-60.
36. Hostoffer R.W., Bay C.A., Wagner K., Venglarcik J., Sahara H., Omair E., et al. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. ClinPediatr (Phila) 1996; 35: 273-6.
37. White S.M., Thompson E.M., Kidd A., Savarirayan R., Turner A., Amor D., et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J MedGenet A 2004; 127a: 118-27.
38. Frenk N.E., Kim C.A., Carneiro-Sampaio M., Orii N.M., Vasconcelos D.M., et al. Basic evaluation of the immunocompetenceof Brazilian patients with Kabuki syndrome. Pediatria (São Paulo) 2009; 31: 170-7.
39. Lindsley A.W., Saal H.M., Burrow T.A., Hopkin R.J., Shchelochkov O., Khandelwal P., et al. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol 2016 Jan; 137 (1): 179-87.
40. Nako Y., Maruyama K., Sakaguchi M., et al. Two cases of autoimmune hemolytic anemia: a case associated with Kabuki make-up syndrome and a case with IgD as an anti-erythrocyte autoantibody. J JpnPediatr Soc 1984; 99: 565-9.
41. Watanabe T., Miyakawa M., Satoh M., Abe T., Oda Y. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta PaediatrJpn. 1994; 36: 727-9.
42. Artigas M., Alcazar R., Bel J., Fernandez P., Javier G., Ortega E., et al. Kabuki syndrome and common variable immunodeficiency. Am J Hum Genet 1997; 61 (suppl): A91.
43. McGaughran J., Aftimos S., Jefferies C., Winship I. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. ClinDysmorphol 2001; 10: 257-62.
44. Genevieve D., Amiel J., Viot G., Merrer M.Le, Sanlaville D., Urtizberea A., et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet 2004; 129A: 64-8.
45. Armstrong L., Abd El Moneim A., Aleck K., Aughton D.J., Baumann C., Braddock S.R., et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005; 132A: 265-72.
46. Gidwani P., Segal E., Shanske A., Driscoll C. Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome. Am J Med Genet A 2007; 143A: 1338-41.
47. Zannolli R., Buoni S., Macucci F., Scarinci R., Viviano M., Orsi A., et al. Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G. Brain Dev 2007; 29: 373-6.
48. Oto J., Mano A., Nakataki E., Yamaguchı H., Inuı D., Imanaka H., et al. An adult patient with Kabuki syndrome presenting withHenoch-Schönlein purpura complicated with pulmonary hemorrhage. J Anesth 2008; 22: 460-3.
49. Ho J., Fox D., Innes A.M., McLeod R., Butzner D., Johnson N., et al. Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. J Pediatr Endocrinol Metab 2010; 23: 975-9.
50. Brackmann F., Krumbholz M., Langer T., Rascher W., Holter W., Metzler M., et al. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. J Pediatr Hematol Oncol 2013 Oct; 35 (7): 314-6.
51. Giordano P., Lassandro G., Sangerardi M., Faienza M., Valente F., Martire B. Autoimmune haematological disorders in two Italian children with Kabuki syndrome. Ital J Pediatr 2014; 40: 10.
52. Nishizaki N., Fujinaga S., Hirano D., Murakami H., Kamei K., Ohtomo Y., et al. Membranoproliferative glomerulonephritis type 3 associated with Kabuki syndrome. Clin Nephrol 2014; 81: 369-73.
53. Scherer S., Theile U., Beyer V., Ferrari R., Kreck C., Manfred Rister M. Patient with Kabuki syndrome and acute leukemia. Am J Med Genet A 2003 Sep 15; 122A (1): 76-9.
54. Shalev S.A., Clarke L.A., Koehn D., Langlois S., Zackai E.H., Hall J.G., et al. Long-term follow-up of three individuals with Kabuki syndrome. Am J Med Genet A 2004; 125A: 191-200.
55. Hoffman J.D., Ciprero K.L., Sullivan K.E., Kaplan P.B., McDonald-McGinn D.M., Zackai E.H., Ming J.E. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A 2005; 135: 278-81.
56. Torii Y., Yagasaki H., Tanaka H., Mizuno S., Nishio N., Muramatsu H., et al. Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome. Int J Hematol 2009; 90: 174-6.
57. Ansel K.M., Djuretic I., Tanasa B., Rao A. Regulation of Th2differentiation and IL4 locus accessibility. Annu Rev Immunol 2006; 24: 607-56.
58. Murphy K.M., Reiner S.L. The lineage decisions of helper T cells. Nat Rev Immunol 2002; 2: 933-44.
59. Szabo S.J., Sullivan B.M., Peng S..L, Glimcher L.H. Molecularmechanisms regulating Th1 immune responses. Annu Rev Immunol 2003; 21: 713-58.
60. Weaver C.T., Hatton R.D., Mangan P.R., Harrington L.E. IL-17family cytokines and the expanding diversity of effector T cell lineages. Annu Rev Immunol 2007; 25: 821-52.
61. Zhu J., Paul W.E. CD4 T cells: fates, functions, and faults. Blood 2008; 112: 1557-69.
62. Sakaguchi S., Yamaguchi T., Nomura T., Ono M. Regulatory T cells and immune tolerance. Cell 2008; 133: 775-87.
Pediatric Hematology/Oncology and Immunopathology. 2017; 16: 75-83
Kabuki syndrome
https://doi.org/10.24287/1726-1708-2017-16-4-75-83Abstract
Kabuki syndrome (KS) is a rare inherited disease that consists of a specific morphological changes in the face, short stature, various organ malformations, variable degree of intellectual disability. Mutations in KMT2D gene have been identified as the main cause for KS type 1 (KS type 1 about 70% of patients), whereas mutations in KDM6A gene causes KS type 2 are a much less frequent (less than 5% of patients). Most mutations of KMT2D are private de novo mutations; familial occurrence with an autosomal dominant pattern has also been reported. KS type 2 (caused by mutations in a second gene, KDM6A) has X-linked inheritance. Both genes functioning as epigenetic modulators through histone modifications in the course of embryogenesis and in several biological processes. Different human disorders are caused by mutations of genes involved in the epigenetic regulation, all these share developmental defects, disturbed growth, multiple congenital organ malformations, and also hematological and immunological defects. In particular, most KS patients show increased susceptibility to infections and have reduced serum immunoglobulin levels, while some suffer also from autoimmune manifestations, such as idiopathic thrombocytopenic purpura, hemolytic anemia and other. This article provides a review of the literature and a description of the case report of a patient with genetically confirmed KS type 2, with characteristic phenotypic manifestations, congenital malformations, immunodeficiency and autoimmune cytopenias.
References
1. Niikawa N., Matsuura N., Fukushima Y., Ohsawa T., Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565-9.
2. Kuroki Y., Suzuki Y., Chyo H., Hata A., Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570-3.
3. Ng S.B., Bigham A.W., Buckingham K.J., Hannibal M.C., McMillin M.J., Gildersleeve H.I., et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42: 790-3.
4. Lederer D., Grisart B., Digilio M.C., Benoit V., Crespin M., Ghariani S.C., et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. AJHG 2012; 90: 119-24.
5. Miyake N., Mizuno S., Okamoto N., Ohashi H., Shiina M., Ogata K., et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013; 34: 108-10.
6. Lederer D., Shears D., Benoit V., Verellen-Dumoulin C., Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A 2014; 164A: 1289-92.
7. Banka S., Lederer D., Benoit V., Jenkins E., Howard E., Bunstone S., et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet 2015; 87: 252-8.
8. Stagi S., Gulino A.V., Lapi E., Rigante D. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res 2016; 64: 345-59.
9. Banka S., Veeramachaneni R., Reardon W., Howard E., Bunstone S., Ragge N., et al. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. EJHG 2012; 20: 381-8.
10. Shah M., Bogucki B., Mavers M. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. BMC Med Genet 2005 Jul 25; 6: 28.
11. Moral S., Zuccarino F., Loma-Osorio P. Double Aortic Arch: An Unreported Anomaly with Kabuki Syndrome. PediatrCardiol 2008; 30: 82-4.
12. Shahdadpuri R., Lynch S.A., Murchan H., McMahon C.J. A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage. PediatrCardiol 2008; 29: 820-2.
13. Bögershausen N., Wollnik B. Unmasking Kabuki syndrome. Clin Genet 2013; 83: 201-1.
14. Cheon C.-K., Ko J.M. Kabuki syndrome: Clinical and molecular characteristics. Korean J Pediatr 2015; 58: 317-24.
15. Stagi S., Gulino A.V., Lapi E., Rigante D. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res 2016; 64: 345-59.
16. Schulz Y., Freese L., Mänz J., Zoll B., Völter C., Brockmann K., et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet 2014 Aug 15; 23 (16): 4396-405.
17. Patel N., Alkuraya F.S. Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation? Am J Med Genet A 2015 Jan; 167A (1): 259-60.
18. Butcher D.T., Cytrynbaum C., Turinsky A.L., Siu M.T., Inbar-Feigenberg M., Mendoza-Londono R., et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet 2017 May 4; 100 (5): 773-88.
19. Kouzarides T. Chromatin modifications and their function. Cell 2007; 128: 693-705.
20. Wei G., Wei L., Zhu J., Zang C., Hu-Li J., Yao Z., et al. Global mapping of H3K4me3 and H3K27me3 reveals specificity andplasticity in lineage fate determination of differentiating CD4+T cells. Immunity 2009; 30: 155-67.
21. Eissenberg J.C., Shilatifard A. Histone H3 Lysine 4 (H3K4) methylation in development and differentiation. Dev Biol 2010; 339: 240-9.
22. Venkatesh S., Workman J.L. Histone exchange, chromatin structure and the regulation of transcription. Nat Rev Mol Cell Biol 2015; 16: 178-89.
23. Zhu J., Paul W.E. CD4 T cells: fates, functions, and faults. Blood 2008; 112: 1557-69.
24. Mhanni A.A., Chudley A.E. Genetic landmarks through philately - Kabuki theater and Kabuki syndrome. Clin Genet 1999; 56: 116-7.
25. Wessels M.W., Brooks A.S., Hoogeboom J., Niermeijer M.F., Willems P.J. Kabuki syndrome: a review study ofthree hundred patients. Clinical Dysmorphology 2002; 11: 95-102.
26. Digilio M.C., Marino B., Toscano A., Giannotti A., Dallapiccola B. Congenital heart defects in Kabuki syndrome. Am J Med Genet 2001; 100: 269-74.
27. McGaughran J.M., Donnai D., Clayton-Smith J. Biliary atresia in Kabuki syndrome. Am J Med Genet 2000; 91: 157-8.
28. Niikawa N., Kuroki Y., Kajii T., Matsuura N., Ishikiriyama S., Tonokim H., et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988, 31: 565-89.
29. Devriendt K., Lemli L., Craen M., de Zegher F. Growth hormone deficiency and premature thelarche in a female infant with Kabuki makeup syndrome. Horm Res 1995; 43: 303-6.
30. Kawame H., Hannibal M.C., Hudgins L., Pagon R.A. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999; 134: 480-5.
31. De Dios J.A., Javaid A.A., Ballesteros E., Metersky M.L. An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. Conn Med 2012 Jan; 76 (1): 15-8.
32. Chrzanowska K.H., Krajewska-Walasek M., Kuś J., Michalkie-wicz J., Maziarka D., Wolski J.K., et al. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 1998 Apr; 53 (4): 308-12.
33. Miyake N., Koshimizu E., Okamoto N., Mizuno S., Ogata T., Nagai T., et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013; 161A: 2234-43.
34. Frans G., Meyts I., Devriendt K., Liston A., Vermeulen F., Bossuyt X. Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. Am J Med Genet A 2016 Mar; 170 (3): 801-3.
35. Lin J.L., Lee W.I., Huang J.L., Chen P. K-T., Chan K.C., Lo L.J., et al. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Clin Genet 2015 Sep; 88 (3): 255-60.
36. Hostoffer R.W., Bay C.A., Wagner K., Venglarcik J., Sahara H., Omair E., et al. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies. ClinPediatr (Phila) 1996; 35: 273-6.
37. White S.M., Thompson E.M., Kidd A., Savarirayan R., Turner A., Amor D., et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J MedGenet A 2004; 127a: 118-27.
38. Frenk N.E., Kim C.A., Carneiro-Sampaio M., Orii N.M., Vasconcelos D.M., et al. Basic evaluation of the immunocompetenceof Brazilian patients with Kabuki syndrome. Pediatria (São Paulo) 2009; 31: 170-7.
39. Lindsley A.W., Saal H.M., Burrow T.A., Hopkin R.J., Shchelochkov O., Khandelwal P., et al. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol 2016 Jan; 137 (1): 179-87.
40. Nako Y., Maruyama K., Sakaguchi M., et al. Two cases of autoimmune hemolytic anemia: a case associated with Kabuki make-up syndrome and a case with IgD as an anti-erythrocyte autoantibody. J JpnPediatr Soc 1984; 99: 565-9.
41. Watanabe T., Miyakawa M., Satoh M., Abe T., Oda Y. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura. Acta PaediatrJpn. 1994; 36: 727-9.
42. Artigas M., Alcazar R., Bel J., Fernandez P., Javier G., Ortega E., et al. Kabuki syndrome and common variable immunodeficiency. Am J Hum Genet 1997; 61 (suppl): A91.
43. McGaughran J., Aftimos S., Jefferies C., Winship I. Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. ClinDysmorphol 2001; 10: 257-62.
44. Genevieve D., Amiel J., Viot G., Merrer M.Le, Sanlaville D., Urtizberea A., et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet 2004; 129A: 64-8.
45. Armstrong L., Abd El Moneim A., Aleck K., Aughton D.J., Baumann C., Braddock S.R., et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005; 132A: 265-72.
46. Gidwani P., Segal E., Shanske A., Driscoll C. Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome. Am J Med Genet A 2007; 143A: 1338-41.
47. Zannolli R., Buoni S., Macucci F., Scarinci R., Viviano M., Orsi A., et al. Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G. Brain Dev 2007; 29: 373-6.
48. Oto J., Mano A., Nakataki E., Yamaguchı H., Inuı D., Imanaka H., et al. An adult patient with Kabuki syndrome presenting withHenoch-Schönlein purpura complicated with pulmonary hemorrhage. J Anesth 2008; 22: 460-3.
49. Ho J., Fox D., Innes A.M., McLeod R., Butzner D., Johnson N., et al. Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. J Pediatr Endocrinol Metab 2010; 23: 975-9.
50. Brackmann F., Krumbholz M., Langer T., Rascher W., Holter W., Metzler M., et al. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. J Pediatr Hematol Oncol 2013 Oct; 35 (7): 314-6.
51. Giordano P., Lassandro G., Sangerardi M., Faienza M., Valente F., Martire B. Autoimmune haematological disorders in two Italian children with Kabuki syndrome. Ital J Pediatr 2014; 40: 10.
52. Nishizaki N., Fujinaga S., Hirano D., Murakami H., Kamei K., Ohtomo Y., et al. Membranoproliferative glomerulonephritis type 3 associated with Kabuki syndrome. Clin Nephrol 2014; 81: 369-73.
53. Scherer S., Theile U., Beyer V., Ferrari R., Kreck C., Manfred Rister M. Patient with Kabuki syndrome and acute leukemia. Am J Med Genet A 2003 Sep 15; 122A (1): 76-9.
54. Shalev S.A., Clarke L.A., Koehn D., Langlois S., Zackai E.H., Hall J.G., et al. Long-term follow-up of three individuals with Kabuki syndrome. Am J Med Genet A 2004; 125A: 191-200.
55. Hoffman J.D., Ciprero K.L., Sullivan K.E., Kaplan P.B., McDonald-McGinn D.M., Zackai E.H., Ming J.E. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A 2005; 135: 278-81.
56. Torii Y., Yagasaki H., Tanaka H., Mizuno S., Nishio N., Muramatsu H., et al. Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome. Int J Hematol 2009; 90: 174-6.
57. Ansel K.M., Djuretic I., Tanasa B., Rao A. Regulation of Th2differentiation and IL4 locus accessibility. Annu Rev Immunol 2006; 24: 607-56.
58. Murphy K.M., Reiner S.L. The lineage decisions of helper T cells. Nat Rev Immunol 2002; 2: 933-44.
59. Szabo S.J., Sullivan B.M., Peng S..L, Glimcher L.H. Molecularmechanisms regulating Th1 immune responses. Annu Rev Immunol 2003; 21: 713-58.
60. Weaver C.T., Hatton R.D., Mangan P.R., Harrington L.E. IL-17family cytokines and the expanding diversity of effector T cell lineages. Annu Rev Immunol 2007; 25: 821-52.
61. Zhu J., Paul W.E. CD4 T cells: fates, functions, and faults. Blood 2008; 112: 1557-69.
62. Sakaguchi S., Yamaguchi T., Nomura T., Ono M. Regulatory T cells and immune tolerance. Cell 2008; 133: 775-87.
