Валеология: Здоровье, Болезнь, Выздоровление. 2020; : 107-113
БОЛЕЗНИ ИММУННОЙ ДИСРЕГУЛЯЦИИ: РАСПРОСТРАНЕННОСТЬ, КЛИНИКО- ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ, ВАЖНЫЕ АСПЕКТЫ ВЕДЕНИЯ ПАЦИЕНТОВ
Аннотация
В данной обзорной статье представлены основные нозологические формы болезней иммунной дисрегуляции (БИД): IPEX-синдром, APECED, АЛПС, их распространенность, клинические и генетические особенности, поскольку большая часть пациентов с БИД не выявляется или диагностируется очень поздно.
Список литературы
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18. Dorsey M. J., Petrovic A. et. al. FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning // Immunologic Research. – 2009. – Vol. 44. - P: 179-184.
19. Bennett C., Brunkow M. et. al. A rare polyadenylation signal mutation of the FOXP3 gene leads to the IPEX syndrome // Immunogenetics. – 2001. – Vol. 53. –P. 435-439.
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21. De Benedetti F., Insalaco A. et al. Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome // Clinical Gastroenterology and Hepatology. - 2006. – Vol. 4. – P. 653-659.
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23. Kobayashi I., Kubota M. et. al. Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3 // Clinical Immunology. – 2011. – Vol. 141. – P. 83-89.
24. Nieves D. S., Phipps R. P. et al. Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome // Archives of Dermatology. – 2004. – Vol. 140. – Р. 80-85.
25. Zennaro D., Scala E. et al. Proteomics plus genomics approaches in PID: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome // Clinical and Experimental Immunology. – 2012. – Vol. 167. – P. 120-128.
26. Moudgil A., Perriello P. et.al Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy // Pediatric Nephrology. – 2007. – Vol. 22. – P. 1799-1802.
27. López S. I., Ciocca M. et al. Autoimmune Hepatitis Type 2 In A Child With IPEX Syndrome // Journal of Pediatric Gastroenterology and Nutrition. – 2011. – Vol. 1. – P. 690-693.
28. Rodrigo R., Atapattu N. IPEX syndrome with membrano-proliferative nephrotic syndrome // Ceylon Medical Journal. – 2013. – Vol. 58. – P. 31-38.
29. Bindl L., Torgerson T. et al. Successful Use of the New Immune-suppressor Sirolimus in IPEX // The Journal of Pediatrics. – 2005. – Vol. 147. – P. 256-259.
30. Yong P. L., Russo P., Sullivan K. E. Use of Sirolimus in IPEX and IPEX-Like Children // Journal of Clinical Immunology. – 2008. – Vol. 28. – P. 581-587.
31. Baud O., Goulet O. et al. Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation // New England Journal of Medicine. – 2001. – Vol. 344. – P. 1758-1762.
32. Meloni A., Willcox N., et. al. Autoimmune polyendocrine syndrome Type 1: An extensive longitudinal study in Sardinian patients // J. Clin. Endocrinol. Metab. - 2012. - Vol. 97. – P. 1114–1124.
33. Betterle C., Greggio N. A., Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1 // J. Clin. Endocrinol. Metab. - 1998. – Vol. 83. – P. 1049–1055.
34. Faiyaz-Ul-Haque M., Bin-Abbas B. et. al. Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients // Clin. Genet. – 2009. – Vol. 76. – P. 431–440.
35. Bin-Abbas B. S., Faiyaz-Ul-Haque M. et. al Autoimmune polyglandular syndrome type 1 in Saudi children // Saudi Med. J. – 2010. – Vol. 31. – P. 788–792.
36. Orlova E. M., Bukina A. M. et. al. Autoimmune polyglandular syndrome type 1 in Russian patients: Clinical variants and autoimmune regulator mutations // Horm. Res. Paediatr. – 2010. – Vol. 73. – P. 449–457.
37. Fierabracci A. Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity // Autoimmun. Rev. - 2011. –Vol. 10. – P. 137–143.
38. Halonen M., Eskelin P. et. al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy phenotype // J. Clin. Endocrinol. Metab. – 2002. – Vol. 87. – P. 2568–2574.
39. Kluger N., Ranki A., Krohn K. APECED: Is this a model for failure of T cell and B cell tolerance // Front. Immunol. - 2012. – Vol. 3. – P. 232.
40. Husebye E. S., Perheentupa J., Rautemaa R., Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I // J. Intern. Med. – 2009. – Vol. 265. – P. 514–529.
41. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy // J. Clin. Endocrinol. Metab. – 2006. – Vol. 91. – P. 2843–2850.
42. Arstila T. P., Jarva H. Human APECED; a Sick Thymus Syndrome? // Front. Immunol. – 2013. – Vol. 4. – P. 313.
43. Merenmies L., Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED) // Acta Ophthalmol.Scand. – 2000. – Vol. 78. – P. 532–535.
44. Bluestone J. A., Herold K., Eisenbarth G. Genetics, pathogenesis and clinical interventions in type 1 diabetes // Nature. – 2010. – Vol. 464. – P. 1293–1300.
45. Perheentupa J., Miettinen A. Autoimmune polyendocrine syndrome type I (APECED) // RG Landes Company; Austin, TX, USA. - 1999. - P. 19–40.
46. Sneller M. C., Dale J. K., Straus S. E. Autoimmune lymphoproliferative syndrome // Curr. Opin. Rheumatol. – 2003.- Vol. 15. – P. 417–421.
47. Straus S. E. et al. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome // Ann. Intern. Med. – 1999. – Vol. 130. – P. 591–601.
48. Rieux-Laucat F., Le Deist F., Fischer A. Autoimmunelymphoproliferative syndromes: genetic defects of apoptosis pathways // Cell Death Differ. – 2003. – Vol. 10. – P. 124–133.
49. Rao V. K., Oliveira J. B. How I treat autoimmune lymphoproliferative syndrome // Blood. – 2011. – Vol. 118. – P. 5741–5751.
50. Turbyville J. C., Rao V. K. The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance // Autoimmun. Rev. – 2010. – P. 488–493.
51. Madkaikar M., Mhatre S., Gupta M., Ghosh K. Advances in autoimmune lymphoproliferative syndromes // Eur. J. Haematol. – 2011. – Vol. 87. – P. 1–9.
Valeology: Health - Illnes - recovery. 2020; : 107-113
CLINICAL AND GENETIC FEATURES OF DISEASES OF IMMUNE DYSREGULATION
Abstract
This review article presents the main nosological forms of one of the 9 groups of primary immunodeficiencies, such as diseases of immune dysregulation: IPEX syndrome, APECED, ALPS, their prevalence, clinical and genetic features. Since most patients with diseases of immune dysregulation are not diagnosed or are diagnosed very late.
References
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2. Bousfiha A., Jeddane L. et al. The 2015 IUIS Phenotypic Classification for PID // J Clin Immunol. – 2015. - Vol. 35. – P. 727–738.
3. Boyle J. M., Buckley R. H. Population prevalence of diagnosed PID diseases in the United States // J Clin Immunol. – 2007. – Vol. 27. – P. 497–502.
4. Kirkpatrick P., Riminton S. Primary immunodeficiency diseases in Australia and New Zealand // J Clin Immunol. – 2007. - Vol. 27. – P. 517–524.
5. The French national registry of PID diseases //Clinical Immunology. – 2010. – Vol. 135. – P. 264–272.
6. Ishimura M., Takada H. et al. Nationwide survey of patients with PID diseases in Japan //J Clin Immunol. – 2011. – Vol. 31. – P. 968–976.
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11. Rubio-Cabezas O., Minton J. A. L., Caswell R. et al. Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes // Diabetes Care. – 2009. – Vol. 32. – P. 111-116.
12. Barzaghi F., Passerini L., Bacchetta R. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity // Frontiers in Immunology. – 2012. – Vol. 3.
13. Bae K. W., Kim B. E. et al. A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome // European Journal of Pediatrics. –2011. – Vol. 170. – P. 1611-1615.
14. Bennett C. L., Yoshioka R. et al. X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3 // The American Journal of Human Genetics. – 2000. – Vol. 66. – P. 461-468.
15. Sakaguchi S. The origin of FOXP3-expressing CD4+ regulatory T cells: thymus or periphery //Journal of Clinical Investigation. - 2003. – Vol. 112. –P. 1310-1312.
16. Hori S., Nomura T., Sakaguchi S. Control of Regulatory T Cell Development by the Transcription Factor Foxp3 // Science. - 2003. – Vol.299. – P. 1057-1061.
17. Khattri R., Cox T., Yasayko S.-A., Ramsdell F. An essential role for Scurfin in CD4+CD25+ T regulatory cells // Nature Immunology. - 2003. - Vol. 4. – P. 337-342.
18. Dorsey M. J., Petrovic A. et. al. FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning // Immunologic Research. – 2009. – Vol. 44. - P: 179-184.
19. Bennett C., Brunkow M. et. al. A rare polyadenylation signal mutation of the FOXP3 gene leads to the IPEX syndrome // Immunogenetics. – 2001. – Vol. 53. –P. 435-439.
20. Gambineri E., Perroni L. et. al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome // Journal of Allergy and Clinical Immunology. - 2008. – Vol. 122. – P. 1105-1112.
21. De Benedetti F., Insalaco A. et al. Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome // Clinical Gastroenterology and Hepatology. - 2006. – Vol. 4. – P. 653-659.
22. Wildin R. S. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome // Journal of Medical Genetics. – 2002. – Vol. 39. – P. 537-545.
23. Kobayashi I., Kubota M. et. al. Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3 // Clinical Immunology. – 2011. – Vol. 141. – P. 83-89.
24. Nieves D. S., Phipps R. P. et al. Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome // Archives of Dermatology. – 2004. – Vol. 140. – R. 80-85.
25. Zennaro D., Scala E. et al. Proteomics plus genomics approaches in PID: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome // Clinical and Experimental Immunology. – 2012. – Vol. 167. – P. 120-128.
26. Moudgil A., Perriello P. et.al Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy // Pediatric Nephrology. – 2007. – Vol. 22. – P. 1799-1802.
27. López S. I., Ciocca M. et al. Autoimmune Hepatitis Type 2 In A Child With IPEX Syndrome // Journal of Pediatric Gastroenterology and Nutrition. – 2011. – Vol. 1. – P. 690-693.
28. Rodrigo R., Atapattu N. IPEX syndrome with membrano-proliferative nephrotic syndrome // Ceylon Medical Journal. – 2013. – Vol. 58. – P. 31-38.
29. Bindl L., Torgerson T. et al. Successful Use of the New Immune-suppressor Sirolimus in IPEX // The Journal of Pediatrics. – 2005. – Vol. 147. – P. 256-259.
30. Yong P. L., Russo P., Sullivan K. E. Use of Sirolimus in IPEX and IPEX-Like Children // Journal of Clinical Immunology. – 2008. – Vol. 28. – P. 581-587.
31. Baud O., Goulet O. et al. Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation // New England Journal of Medicine. – 2001. – Vol. 344. – P. 1758-1762.
32. Meloni A., Willcox N., et. al. Autoimmune polyendocrine syndrome Type 1: An extensive longitudinal study in Sardinian patients // J. Clin. Endocrinol. Metab. - 2012. - Vol. 97. – P. 1114–1124.
33. Betterle C., Greggio N. A., Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1 // J. Clin. Endocrinol. Metab. - 1998. – Vol. 83. – P. 1049–1055.
34. Faiyaz-Ul-Haque M., Bin-Abbas B. et. al. Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients // Clin. Genet. – 2009. – Vol. 76. – P. 431–440.
35. Bin-Abbas B. S., Faiyaz-Ul-Haque M. et. al Autoimmune polyglandular syndrome type 1 in Saudi children // Saudi Med. J. – 2010. – Vol. 31. – P. 788–792.
36. Orlova E. M., Bukina A. M. et. al. Autoimmune polyglandular syndrome type 1 in Russian patients: Clinical variants and autoimmune regulator mutations // Horm. Res. Paediatr. – 2010. – Vol. 73. – P. 449–457.
37. Fierabracci A. Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity // Autoimmun. Rev. - 2011. –Vol. 10. – P. 137–143.
38. Halonen M., Eskelin P. et. al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy phenotype // J. Clin. Endocrinol. Metab. – 2002. – Vol. 87. – P. 2568–2574.
39. Kluger N., Ranki A., Krohn K. APECED: Is this a model for failure of T cell and B cell tolerance // Front. Immunol. - 2012. – Vol. 3. – P. 232.
40. Husebye E. S., Perheentupa J., Rautemaa R., Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I // J. Intern. Med. – 2009. – Vol. 265. – P. 514–529.
41. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy // J. Clin. Endocrinol. Metab. – 2006. – Vol. 91. – P. 2843–2850.
42. Arstila T. P., Jarva H. Human APECED; a Sick Thymus Syndrome? // Front. Immunol. – 2013. – Vol. 4. – P. 313.
43. Merenmies L., Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED) // Acta Ophthalmol.Scand. – 2000. – Vol. 78. – P. 532–535.
44. Bluestone J. A., Herold K., Eisenbarth G. Genetics, pathogenesis and clinical interventions in type 1 diabetes // Nature. – 2010. – Vol. 464. – P. 1293–1300.
45. Perheentupa J., Miettinen A. Autoimmune polyendocrine syndrome type I (APECED) // RG Landes Company; Austin, TX, USA. - 1999. - P. 19–40.
46. Sneller M. C., Dale J. K., Straus S. E. Autoimmune lymphoproliferative syndrome // Curr. Opin. Rheumatol. – 2003.- Vol. 15. – P. 417–421.
47. Straus S. E. et al. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome // Ann. Intern. Med. – 1999. – Vol. 130. – P. 591–601.
48. Rieux-Laucat F., Le Deist F., Fischer A. Autoimmunelymphoproliferative syndromes: genetic defects of apoptosis pathways // Cell Death Differ. – 2003. – Vol. 10. – P. 124–133.
49. Rao V. K., Oliveira J. B. How I treat autoimmune lymphoproliferative syndrome // Blood. – 2011. – Vol. 118. – P. 5741–5751.
50. Turbyville J. C., Rao V. K. The autoimmune lymphoproliferative syndrome: A rare disorder providing clues about normal tolerance // Autoimmun. Rev. – 2010. – P. 488–493.
51. Madkaikar M., Mhatre S., Gupta M., Ghosh K. Advances in autoimmune lymphoproliferative syndromes // Eur. J. Haematol. – 2011. – Vol. 87. – P. 1–9.
