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Проблемы Эндокринологии

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Х-сцепленные иммунная дисрегуляция, полиэндокринопатия и энтеропатия (IPEX-синдром): описание клинического случая и краткий обзор литературы

https://doi.org/10.14341/probl201460529-33

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Аннотация

IPEX-синдром (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) является одной из редких наследственных Х-сцепленных форм неонатального сахарного диабета, ассоциированного с мутациями в гене FOXP3. Заболевание характеризуется сочетанием полиэндокринопатии (чаще неонатальный сахарный диабет) с энтеропатией и иммунной дисрегуляцией. Прогноз в большинстве случаев неблагоприятный. Представлено первое в отечественной литературе описание генетически подтвержденного клинического случая IPEX-синдрома.

Об авторах

Ю В Тихонович
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


Е Е Петряйкина
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


И Г Рыбкина
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


И В Гаряева
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


А Н Тюльпаков
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


Список литературы

1. Rubio-Cabezas O, Minton JAL, Caswell R, Shield JP, Deiss D, Sumnik Z, et al. Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes. Diabetes Care. 2009;32(1):111-116. doi: 10.2337/dc08-1188

2. Barzaghi F, Passerini L, Bacchetta R. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity. Frontiers in Immunology. 2012;3. doi: 10.3389/fimmu.2012.00211

3. den Dunnen J, Antonarakis S. Nomenclature for the description of human sequence variations. Human Genetics. 2014;109(1):121-124. doi: 10.1007/s004390100505

4. Powell BR, Buist NRM, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. The Journal of Pediatrics. 1982;100(5):731-737. doi: 10.1016/s0022-3476(82)80573-8

5. Chatila TA, Blaeser F, Ho N, Lederman HM, Voulgaropoulos C, Helms C, et al. JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome. Journal of Clinical Investigation. 2000;106(12):R75-R81. doi: 10.1172/jci11679

6. Bennett CL, Yoshioka R, Kiyosawa H, Barker DF, Fain PR, Shigeoka AO, et al. X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3. The American Journal of Human Genetics. 2000;66(2):461-468. doi: 10.1086/302761

7. Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova J-L, Buist N, et al. Nature Genetics. 2001;27(1):18-20. doi: 10.1038/83707

8. Sakaguchi S. The origin of FOXP3-expressing CD4+ regulatory T cells: thymus or periphery. Journal of Clinical Investigation. 2003;112(9):1310-1312. doi: 10.1172/jci20274

9. Hori S, Nomura T, Sakaguchi S. Control of Regulatory T Cell Development by the Transcription Factor Foxp3. Science. 2003;299(5609):1057-1061. doi: 10.1126/science.1079490

10. Khattri R, Cox T, Yasayko S-A, Ramsdell F. An essential role for Scurfin in CD4+CD25+ T regulatory cells. Nature Immunology. 2003;4(4):337-342. doi: 10.1038/ni909

11. Dorsey MJ, Petrovic A, Morrow MR, Dishaw LJ, Sleasman JW. FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Immunologic Research. 2009;44(1-3):179-184. doi: 10.1007/s12026-009-8112-y

12. Bennett C, Brunkow M, Ramsdell F, O'Briant K, Zhu Q, Fuleihan R, et al. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAAAAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001;53(6):435-439. doi: 10.1007/s002510100358

13. Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity. Journal of Allergy and Clinical Immunology. 2008;122(6):1105-1112.e1101. doi: 10.1016/j.jaci.2008.09.027

14. De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, et al. Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome. Clinical Gastroenterology and Hepatology. 2006;4(5):653-659. doi: 10.1016/j.cgh.2005.12.014

15. Bae KW, Kim BE, Choi J-H, Lee JH, Park YS, Kim G-H, et al. A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. European Journal of Pediatrics. 2011;170(12):1611-1615. doi: 10.1007/s00431-011-1588-1

16. Wildin RS. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. Journal of Medical Genetics. 2002;39(8):537-545. doi: 10.1136/jmg.39.8.537

17. Kobayashi I, Kubota M, Yamada M, Tanaka H, Itoh S, Sasahara Y, et al. Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. Clinical Immunology. 2011;141(1):83-89. doi: 10.1016/j.clim.2011.05.010

18. Nieves DS, Phipps RP, Pollock SJ, Ochs HD, Zhu Q, Scott GA, et al. Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome. Archives of Dermatology. 2004;140(4). doi: 10.1001/archderm.140.4.466

19. Zennaro D, Scala E, Pomponi D, Caprini E, Arcelli D, Gambineri E, et al. Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Clinical and Experimental Immunology. 2012;167(1):120-128. doi: 10.1111/j.1365-2249.2011.04492.x

20. Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M, Mannurita SC, et al. The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. Journal of Autoimmunity. 2010;35(3):265-268. doi: 10.1016/j.jaut.2010.06.017

21. Moudgil A, Perriello P, Loechelt B, Przygodzki R, Fitzerald W, Kamani N. Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. Pediatric Nephrology. 2007;22(10):1799-1802. doi: 10.1007/s00467-007-0532-0

22. López SI, Ciocca M, Oleastro M, Cuarterolo ML, Rocca A, de Dávila MTG, et al. Autoimmune Hepatitis Type 2 In A Child With IPEX Syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2011:1. doi: 10.1097/MPG.0b013e3182250651

23. Rodrigo R, Atapattu N, De Silva KSH. IPEX syndrome with membrano-proliferative nephrotic syndrome. Ceylon Medical Journal. 2013;58(1). doi: 10.4038/cmj.v58i1.5368

24. Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, et al. Successful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome). The Journal of Pediatrics. 2005;147(2):256-259. doi: 10.1016/j.jpeds.2005.04.017

25. Yong PL, Russo P, Sullivan KE. Use of Sirolimus in IPEX and IPEX-Like Children. Journal of Clinical Immunology. 2008;28(5):581-587. doi: 10.1007/s10875-008-9196-1

26. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, et al. Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation. New England Journal of Medicine. 2001;344(23):1758-1762. doi: 10.1056/nejm200106073442304


Для цитирования:


Тихонович Ю.В., Петряйкина Е.Е., Рыбкина И.Г., Гаряева И.В., Тюльпаков А.Н. Х-сцепленные иммунная дисрегуляция, полиэндокринопатия и энтеропатия (IPEX-синдром): описание клинического случая и краткий обзор литературы. Проблемы Эндокринологии. 2014;60(5):29-33. https://doi.org/10.14341/probl201460529-33

For citation:


Tikhonovich Yu.V., Petryaikina E.E., Rybkina I.G., Garyaeva I.V., Tyul’pakov A.N. X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review. Problems of Endocrinology. 2014;60(5):29-33. (In Russ.) https://doi.org/10.14341/probl201460529-33

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