Clinical and laboratory characteristics of a group of patients with autoimmune lymphoproliferative syndrome

O. A. Shvetz; Швец О.А.; E. V. Deripapa; Дерипапа Е.В.; V. V. Zakharova; Захарова В.В.; D. S. Abramov; Абрамов Д.С.; E. A. Deordieva; Деордиева Е.А.; E. A. Victorova; Викторова Е.А.; I. N. Abramova; Абрамова И.Н.; Yu. A. Rodina; Родина Ю.А.; O. A. Shragina; Шрагина О.А.; D. D. Baildildina; Байдильдина Д.Д.; I. I. Kalinina; Калинина И.И.; Y. N. Petrova; Петрова У.Н.; E. V. Raikina; Райкина Е.В.; D. M. Konovalov; Коновалов Д.М.; A. V. Pshonkin; Пшонкин А.В.; M. A. Machan; Масчан М.А.; A. Yu. Shcherbina; Щербина А.Ю.

doi:10.24287/1726-1708-2017-16-4-27-34

Clinical and laboratory characteristics of a group of patients with autoimmune lymphoproliferative syndrome

Authors: Shvetz O.A.¹, Deripapa E.V.¹, Zakharova V.V.¹, Abramov D.S.¹, Deordieva E.A.¹, Victorova E.A.¹, Abramova I.N.¹, Rodina Y.A.¹, Shragina O.A.¹, Baildildina D.D.¹, Kalinina I.I.¹, Petrova Y.N.¹, Raikina E.V.¹, Konovalov D.M.¹, Pshonkin A.V.¹, Machan M.A.¹, Shcherbina A.Y.¹
Affiliations:
1. Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology
Issue: Vol 16, No 4 (2017)
Pages: 27-34
Section: Статьи
Submitted: 09.08.2018
Published: 09.11.2017
URL: https://hemoncim.com/jour/article/view/5
DOI: https://doi.org/10.24287/1726-1708-2017-16-4-27-34
ID: 5

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Abstract

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.

Keywords

autoimmune lymphoproliferative syndrome (ALPS), cytopenia, lymphoproliferation, vitamin B12, double-negative α/β+-Т cells (DNT), Fas.

About the authors

O. A. Shvetz

Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, Immunology

Author for correspondence.
Email: shv18081979@gmail.com

MD, pediatrician allergologist/immunologist, outpatient department

Russia 117997, Moscow, Samory Mashela st., 1

+7 (495) 287-6570, доб. 1172

Russian Federation

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