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. 2023 Aug;43(6):1241-1249.
doi: 10.1007/s10875-023-01476-w. Epub 2023 Apr 3.

Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation

Alexandra Laberko  1 , Anna Mukhinа  2   3 , Elena Machneva  4 , Olga Pashchenko  4 , Tatiana Bykova  5 , Larisa Vahonina  6 , Gleb Bronin  7 , Yulia Skvortsova  2 , Elena Skorobogatova  4 , Irina Kondratenko  4 , Larisa Fechina  6 , Anna Shcherbina  2 , Ludmila Zubarovskaya  5 , Dmitry Balashov  2 , Alexander Rumiantsev  2
Affiliations

Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation

Alexandra Laberko et al. J Clin Immunol. 2023 Aug.

Abstract

Purpose: Allogeneic hematopoietic stem cell transplantation (HSCT) is an established therapy for many inborn errors of immunity (IEI). The indications for HSCT have expanded over the last decade. The study aimed to collect and analyze the data on HSCT activity in IEI in Russia.

Methods: The data were collected from the Russian Primary Immunodeficiency Registry and complemented with information from five Russian pediatric transplant centers. Patients diagnosed with IEI by the age of 18 years and who received allogeneic HSCT by the end of 2020 were included.

Results: From 1997 to 2020, 454 patients with IEI received 514 allogeneic HSCT. The median number of HSCTs per year has risen from 3 in 1997-2009 to 60 in 2015-2020. The most common groups of IEI were immunodeficiency affecting cellular and humoral immunity (26%), combined immunodeficiency with associated/syndromic features (28%), phagocyte defects (21%), and diseases of immune dysregulation (17%). The distribution of IEI diagnosis has changed: before 2012, the majority (65%) had severe combined immunodeficiency (SCID) and hemophagocytic lymphohistiocytosis (HLH), and after 2012, only 24% had SCID and HLH. Of 513 HSCTs, 48.5% were performed from matched-unrelated, 36.5% from mismatched-related (MMRD), and 15% from matched-related donors. In 349 transplants T-cell depletion was used: 325 TCRαβ/CD19+ depletion, 39 post-transplant cyclophosphamide, and 27 other. The proportion of MMRD has risen over the recent years.

Conclusion: The practice of HSCT in IEI has been changing in Russia. Expanding indications to HSCT and SCID newborn screening implementation may necessitate additional transplant beds for IEI in Russia.

Keywords: Primary immunodeficiency; hematopoietic stem cell transplantation; inborn errors of immunity; transplantation activity.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Annual number of first and second HSCTs in IEI. The bar chart represents distribution of numbers of first and second HCSTs performed in Russia between the years from 1997 to 2020
Fig. 2
Fig. 2
Distribution of patients by IEI diagnoses by groups and diseases. The pie chart represents distribution of IEI diagnoses (A) and disease (B). HLH, hemophagocytic lymphohistiocytosis; XLP 1 and 2, X-linked lymphoprolypherative disease type 1 and 2; IEI, inborn error of immunity; CID, combined immunodeficiency; ID, immunodeficiency
Fig. 3
Fig. 3
Distribution of IEI diagnoses before and after 2012 and between the age groups at HSCT. The pie chart represents distribution of IEI diagnoses before and after 2012 (A). The bar chart represents distribution of IEI diagnoses between the age groups at HSCT (B). CGD, chronic granulomatous disease; SCID, severe combined immunodeficiency; WAS, Wiscott-Aldrich syndrome; NBS, Nijmegen breakage syndrome; HLH, hemophagocytic lymphohistiocytosis; SCN, severe congenital neutropenia; XLP 1 and 2, X-linked lymphoprolypherative disease type 1 and 2; IEI, inborn error of immunity; other CID, other than SCID combined immunodeficiency
Fig. 4
Fig. 4
Distribution of donor type used over the last 10 years. The bar chart represents distribution of types of donors used for HSCT: matched unrelated, matched related, and mismatched related between years from 2012 to 2020
See this image and copyright information in PMC

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