Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children510.24287/1726-1708-2017-16-4-27-34СтатьиClinical and laboratory characteristics of a group of patients with autoimmune lymphoproliferative syndromeКлинико-лабораторные особенности пациентов с аутоиммунным лимфопролиферативным синдромомShvetzO. A.ШвецО.А.
Russian Federation

MD, pediatrician allergologist/immunologist, outpatient department

Russia 117997, Moscow, Samory Mashela st., 1

+7 (495) 287-6570, доб. 1172

shv18081979@gmail.comDeripapaE. V.ДерипапаЕ.В.
Russian Federation
ZakharovaV. V.ЗахароваВ.В.
Russian Federation
AbramovD. S.АбрамовД.С.
Russian Federation
DeordievaE. A.ДеордиеваЕ.А.
Russian Federation
VictorovaE. A.ВиктороваЕ.А.
Russian Federation
AbramovaI. N.АбрамоваИ.Н.
Russian Federation
RodinaYu. A.РодинаЮ.А.
Russian Federation
ShraginaO. A.ШрагинаО.А.
Russian Federation
BaildildinaD. D.БайдильдинаД.Д.
Russian Federation
KalininaI. I.КалининаИ.И.
Russian Federation
https://orcid.org/0000-0002-1258-8281PetrovaY. N.ПетроваУ.Н.
Russian Federation
https://orcid.org/0000-0002-7634-2053RaikinaE. V.РайкинаЕ.В.
Russian Federation
KonovalovD. M.КоноваловД.М.
Russian Federation
https://orcid.org/0000-0002-2057-2036PshonkinA. V.ПшонкинА.В.
Russian Federation
https://orcid.org/0000-0002-0016-6698MachanM. A.МасчанМ.А.
Russian Federation
https://orcid.org/0000-0002-3113-4939ShcherbinaA. Yu.ЩербинаА.Ю.
Russian Federation
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, ImmunologyФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России09112017164273409082018Copyright ©; 2017, «D. Rogachev NMRCPHOI»Copyright ©; 2017, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2017«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/5

Autoimmune lymphoproliferative syndrome (ALPS) is characterized by abnormal lymphocyte homeostasis due to the defect of Fas-mediated apoptosis. Symptoms include lymphoproliferation, autoimmune complications, increased double-negative α/β+-Т cells (DNT) and vitamin B12 concentration and hypergammaglobulinemia. The study group included 22 patients with ALPS, and eight symptoms-free relatives who carried respective mutations. Thirteen patients had various Fas gene mutations, two – the same mutation of Casp10, in seven patients genetic defect has not been found. Symptoms included combination of cytopenia and lymphoproliferation (n = 17), increased biomarkers: high DNT (Ме = 8,9%) were found in 19 patients, high B12 levels – in 13 patients. B12 level correlated with disease severity, predominantly with lymphoproliferation, which can be used as a marker of disease severity. Due to the heterogeneous nature of ALPS symptoms molecular genetic test play an important role in diagnostic testing of the patients and their relatives.

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