Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2020; 19: 178-184
Симптомы иммунной дисрегуляции как редкие проявления Х-сцепленного лимфопролиферативного синдрома 1-го типа
https://doi.org/10.24287/1726-1708-2020-19-4-178-184Аннотация
Х-сцепленный лимфопролиферативный синдром 1-го типа (ХЛП1) – это первичный иммунодефицит, наиболее яркими проявлениями которого являются гемофагоцитарный лимфогистиоцитоз, как правило, ассоциированный с вирусом Эпштейна–Барр, лимфома и дисгаммаглобулинемия. Иммунные проявления, такие как васкулит, угнетение гемопоэза и др., встречаются крайне редко. Осведомленность и настороженность специалистов в отношении редких осложнений ХЛП1 способствуют правильной диагностике и своевременному проведению куративной терапии – трансплантации гемопоэтических стволовых клеток (ТГСК). Мы приводим два клинических случая ХЛП1 с проявлениями иммунной дисрегуляции, в одном из которых пациенту была проведена успешная ТГСК. Родители дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.
Список литературы
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9. Neves J.F., Raga L.T., Chiang S.C., Tesi B., Vieira J.P., Cordeiro A.I., et al. Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation. Pediatr Infect Dis J 2019; 38 (2): е29–31. DOI: 10.1097/INF.0000000000002154
10. Blackburn P., Lin W., Miller D.A., Lorenzo-Betancor O., Edwards E.S., Zimmermann M.T., et al. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol 2019; 78 (5): 460– 6. DOI: 10.1093/jnen/nlz018
11. Zhu J., Zhang Y., Zhen Z., Chen Y., Wang J., Cai R., Sun X. Lymphoma and cerebral vasculitis in association with X-linked lymphoproliferative disease. Chin J Cancer 2013; 32 (12): 673–7. DOI: 10.5732/cjc.012.10238
12. Dutz J., Benoit L., Wang X., Demetrick D.J., Junker A., de Sa D., Tan R. Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 2001; 97 (1): 95–100. DOI: 10.1182/blood.v97.1.95
13. Kanegane H., Ito Y., Ohshima K., Shichijo T., Tomimasu K., Nomura K., et al. X-Linked Lymphoproliferative Syndrome Presenting With Systemic Lymphocytic Vasculitis. Am J Hematol 2005; 78: 130–3. DOI: 10.1002/ajh.20261
14. Talaat K., Rothman J., Cohen J., Santi M., Rorke-Adams L., Choi J., et al. Lymphocytic Vasculitis Involving the Central Nervous System Occurs in Patients with X-linked Lymphoproliferative Disease in the Absence of Epstein-Barr Virus Infection. Pediatr Blood Cancer 2009; 53 (6): 1120–3. DOI: 10.1002/pbc.22185
15. Filipovich A., Kejian Zhang K., Snow A., Marsh R.A. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 2010; 116 (18): 3398–408. DOI: 10.1182/blood-2010-03-275909
16. Rougemont A., Fournet J., Martin S., de Saint-Basile G., Latour S., Primeau M., et al. Chronic Active Gastritis in X-linked Lymphoproliferative Disease. Am J Surg Pathol 2008; 32 (2): 323–8. DOI: 10.1097/PAS.0b013e318141fca1
17. Mejstríková E., Janda A., Hrusák O., Bucková H. Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases. Pediatrics 2012; 129 (2): 523–8. DOI: 10.1542/peds.2011-0870
18. Gray P., O’Brien T., Wagle M., Tangye S., Palendira U., Roscioli T., et al. Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant. J Clin Immunol. 2015; 35 (7): 604–9. DOI: 10.1007/s10875-015-0194-9
Pediatric Hematology/Oncology and Immunopathology. 2020; 19: 178-184
Immune dysregulation symptoms as a rare manifestation of X-linked lymphoproliferative syndrome type 1
https://doi.org/10.24287/1726-1708-2020-19-4-178-184Abstract
X-linked lymphoproliferative syndrome type 1 (XLP1) is a primary immunodeficiency, the most dramatic manifestations of which are hemophagocytic lymphohistiocytosis (usually associated with Epstein-Barr virus), lymphoma and dysgammaglobulinemia. Immune symptoms like vasculitis, aplastic anemia and others are extremely rare. Specialists awareness and suspicion regarding such complications of XLP1 facilitate correct diagnosis and early curative treatment - hematopoietic stem cell transplantation (HSCT). Here we present two clinical cases of XLP1 with immune dysregulation symptoms where one patient underwent successful HSCT. In each case, the parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
References
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2. Seemayer T.A., Gross T.G., Egeler R.M., Pirruccello S.J., Davis J.R., Kelly C.M., et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res 1995; 38 (4): 471–8. DOI: 10.1203/00006450-199510000-00001
3. Roppel't A.A., Yukhacheva D.V., Myakova N.V., Smirnova N.V., Skvortsova Yu.V., Varlamova T.V. i dr. Kh-stseplennyi limfoproliferativnyi sindrom 1-go i 2-go tipov. Voprosy gematologii/onkologii i immunologii v pediatrii 2016; 15 (1): 17–26.
4. Booth C., Gilmour K.C., Veys P., Gennery A.R., Slatter M.A., Chapel H., et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood 2011; 117 (1): 53–62. DOI: 10.1182/blood-2010-06-284935
5. Jin Y., Zhou W., Tiana Z., Chen T. Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature. Hum Immunol 2016; 77 (8): 658–66. DOI: 10.1016/j.humimm.2016.06.005
6. Baranski B., Armstrong G., Truman J.T., Quinnan G.V. Jr, Straus S.E., Young N.S. Epstein–Barr virus in the bone marrow of patients with aplastic anemia. Ann Intern Med 1989; 109 (9): 695–704. DOI: 10.7326/0003-4819-109-9-695
7. Wang Y., Yagasaki H., Hama A., Nishio N., Takahashi Y., Kojima S. Mutation of SBDS and SH2D1A isnot associated with aplastic anemia in Japanese children. Haematologica 2007; 92 (11): 1573. DOI: 10.3324/haematol.11568
8. Verhelst H., Van Coster R., Bockaert N., Laureys G., Latour S., Fischer A., Haerynck F. Limbic encephalitis as presentation of a SAP deficiency. Neurology 2007; 69 (2): 218–9. DOI: 10.1212/01.wnl.0000265597.56202.6c
9. Neves J.F., Raga L.T., Chiang S.C., Tesi B., Vieira J.P., Cordeiro A.I., et al. Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation. Pediatr Infect Dis J 2019; 38 (2): e29–31. DOI: 10.1097/INF.0000000000002154
10. Blackburn P., Lin W., Miller D.A., Lorenzo-Betancor O., Edwards E.S., Zimmermann M.T., et al. X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. J Neuropathol Exp Neurol 2019; 78 (5): 460– 6. DOI: 10.1093/jnen/nlz018
11. Zhu J., Zhang Y., Zhen Z., Chen Y., Wang J., Cai R., Sun X. Lymphoma and cerebral vasculitis in association with X-linked lymphoproliferative disease. Chin J Cancer 2013; 32 (12): 673–7. DOI: 10.5732/cjc.012.10238
12. Dutz J., Benoit L., Wang X., Demetrick D.J., Junker A., de Sa D., Tan R. Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood 2001; 97 (1): 95–100. DOI: 10.1182/blood.v97.1.95
13. Kanegane H., Ito Y., Ohshima K., Shichijo T., Tomimasu K., Nomura K., et al. X-Linked Lymphoproliferative Syndrome Presenting With Systemic Lymphocytic Vasculitis. Am J Hematol 2005; 78: 130–3. DOI: 10.1002/ajh.20261
14. Talaat K., Rothman J., Cohen J., Santi M., Rorke-Adams L., Choi J., et al. Lymphocytic Vasculitis Involving the Central Nervous System Occurs in Patients with X-linked Lymphoproliferative Disease in the Absence of Epstein-Barr Virus Infection. Pediatr Blood Cancer 2009; 53 (6): 1120–3. DOI: 10.1002/pbc.22185
15. Filipovich A., Kejian Zhang K., Snow A., Marsh R.A. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 2010; 116 (18): 3398–408. DOI: 10.1182/blood-2010-03-275909
16. Rougemont A., Fournet J., Martin S., de Saint-Basile G., Latour S., Primeau M., et al. Chronic Active Gastritis in X-linked Lymphoproliferative Disease. Am J Surg Pathol 2008; 32 (2): 323–8. DOI: 10.1097/PAS.0b013e318141fca1
17. Mejstríková E., Janda A., Hrusák O., Bucková H. Skin Lesions in a Boy With X-linked Lymphoproliferative Disorder: Comparison of 5 SH2D1A Deletion Cases. Pediatrics 2012; 129 (2): 523–8. DOI: 10.1542/peds.2011-0870
18. Gray P., O’Brien T., Wagle M., Tangye S., Palendira U., Roscioli T., et al. Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant. J Clin Immunol. 2015; 35 (7): 604–9. DOI: 10.1007/s10875-015-0194-9
