Chromosomal aberrations as the cause of a complex phenotype in children with primary immunodeficiencies

N. B. Kuzmenko; Кузьменко Н. Б.; A. A. Mukhina; Мухина А. А.; Yu. A. Rodina; Родина Ю. А.; E. V. Deripapa; Дерипапа Е. В.; A. L. Khoreva; Хорева А. Л.; O. A. Shvets; Швец О. А.; E. A. Deordieva; Деордиева Е. А.; V. I. Burlakov; Бурлаков В. И.; A. A. Roppelt; Роппельт А. А.; D. V. Yukhacheva; Юхачёва Д. В.; A. A. Moiseeva; Моисеева А. А.; S. P. Khomiakova; Хомякова С. П.; M. Yu. Alexenko; Алексенко М. Ю.; V. V. Zakharova; Захарова В. В.; E. V. Raykina; Райкина Е. В.; A. Yu. Shcherbina; Щербина А. Ю.

doi:10.24287/1726-1708-2020-19-4suppl-62-67

Chromosomal aberrations as the cause of a complex phenotype in children with primary immunodeficiencies

Authors: Kuzmenko N.B.¹, Mukhina A.A.¹, Rodina Y.A.¹, Deripapa E.V.¹, Khoreva A.L.¹, Shvets O.A.¹, Deordieva E.A.¹, Burlakov V.I.¹, Roppelt A.A.¹, Yukhacheva D.V.¹, Moiseeva A.A.¹, Khomiakova S.P.¹, Alexenko M.Y.¹, Zakharova V.V.¹, Raykina E.V.¹, Shcherbina A.Y.¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation
Issue: Vol 19, No 4 (2020): supplement
Pages: 62-67
Section: MATERIALS OF THE 3rd WORKING MEETING OF ALLERGISTS-IMMUNOLOGISTS
Submitted: 09.01.2021
Accepted: 09.01.2021
Published: 09.01.2021
URL: https://hemoncim.com/jour/article/view/447
DOI: https://doi.org/10.24287/1726-1708-2020-19-4suppl-62-67
ID: 447

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Abstract

Most of known primary immunodeficiencies (PID) are monogenic diseases, mainly due to the point defects in the immune system genes. However, in some rare cases the immunodeficiency is caused by various chromosomal aberrations. 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. A retrospective analysis was performed on a group of 15 patients with clinical and laboratory signs of immunodeficiency, whose chromosomal aberrations were detected by various methods. In six patients from four different families, microdeletions with inclusion of a gene (CTLA4, NFKB1) or a part of a known PID gene (NBAS, DCLRE1C) were detected. Four patients had a complex phenotype, where a mutation in the known PID genes (BTK, CYBB, STAT1 GOF, ATM) was combined with a chromosomal defect. In one case, a homozygous damage in the USB1 gene was confirmed by detection of dysomy chromosome 16 from the father`s side. Two patients were diagnosed with known chromosomal defects – DiGeorge2 and Jacobsen syndrome. Two other patients had various chromosome abnormalities not previously described in PID`s patients. 12/15 (80%) patients had syndromic features – various skeletal dysmorphisms, malformations, and developmental delay. Immunodeficiency genes can be damaged within the chromosomal aberrations. The combination of the various methods of genetic testing is important for patients with PID. Even in PID patients without syndromic features the chromosomal analysis methods or PID diagnosis are necessary.

Keywords

primary immunodeficiencies, genetic defect, chromosomal aberrations, chromosomal microarray analysis

About the authors

N. B. Kuzmenko

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

Author for correspondence.
Email: plunge@list.ru
ORCID iD: 0000-0002-1669-8621

MD, PhD, Head of the Department of Epidemiology and Monitoring of Immunodeficiencies

1 Samory Mashela St., Moscow 117997, Russia

Россия

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