Influence of clinical and immunophenotypic variants of severe combined immunodeficiency on severity and outcomes of opportunistic infections

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Abstract

Severe combined immunodeficiency (SCID) is a primary immunodeficiency that presents with life-threating symptoms in early infancy and has poor prognosis if not promptly treated. Here we present an analysis of infectious presentation and its course depending on clinical and immunophenotypic form of SCID. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. 54 patients were diagnosed with SCID in our center from 2012 to June 2020 and included to this study. The median age at diagnosis was 5.8 months. All patients were divided into 3 groups: classic SCID (n = 31); Omenn  syndrome (n = 11); SCID with maternal fetal engraftment (n = 12). To determine opportunistic infections severity, based on a number of infected organs at disease presentation, 3 groups were formed: with no infections or 1 infected organ, n=15; with 2 infected organs (n = 15); with 3 and more infected organs (n = 22). 22 of 46 BCG vaccinated patients (48%) developed BCG-infection: 16 local and 6 disseminated. There was no difference in severity of infections between 3 groups of SCID (p = 0.22), with more severe infections found in patients older than 6 months of age at diagnosis. T- and NK-cell numbers lower than median level predisposed to severer infections in Omenn syndrome patients (p = 0.041). There was a higher risk of BCG infections in classic SCID with low levels of NK-cells (p = 0.009). 45 patients received allogeneic hematopoietic stem cell transplantation (HSCT). 9 patients died before HSCT and 21 after HSCT of infections and infections-related inflammatory syndromes. Though Т- and NKcells might have a role  in protecting from severe infections, the early diagnosis is the most important factor of better prognosis of SCID patients.

About the authors

A. L. Laberko

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: alexandra.laberko@gmail.com
ORCID iD: 0000-0002-2354-2588

MD, PhD, research associate, department of optimization of primary immunodeficiency treatment

1 Samory Mashela St., Moscow 117997, Russia

Russian Federation

Yu. A. Rodina

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-9857-4456
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

E. V. Deripapa

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-9083-4783
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

A. A. Roppelt

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-5132-1267
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

D. V. Yukhacheva

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-9078-8206
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

D. E. Pershin

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-6148-7209
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

G. G. Solopova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-1680-7269
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

V. V. Brilliantova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-0079-7761
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

M. Yu. Alexenko

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-2521-5353
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

V. V. Zakharova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-5949-5317
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

D. N. Balashov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-2689-0569
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

G. A. Novichkova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-2322-5734
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

A. G. Rumyantsev

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

1 Samory Mashela St., Moscow 117997, Russia Russian Federation

A. Yu. Shcherbina

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-3113-4939
1 Samory Mashela St., Moscow 117997, Russia Russian Federation

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Copyright (c) 2021 Laberko A.L., Rodina Y.A., Deripapa E.V., Roppelt A.A., Yukhacheva D.V., Pershin D.E., Solopova G.G., Brilliantova V.V., Alexenko M.Y., Zakharova V.V., Balashov D.N., Novichkova G.A., Rumyantsev A.G., Shcherbina A.Y.

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