Molecular genetic diagnosis of primary immunodeficiencies (Review of literature and clinical case reports)

Natalya B. Kuzmenko; Кузьменко Наталья Борисовна; Tatyana V. Varlamova; Варламова Татьяна Владимировна; Irina V. Mersiyanova; Мерсиянова Ирина Викторовна; Elena V. Raikina; Райкина Елена Владиславовна; Vlasta O. Bobrynina; Бобрынина Власта Олеговна; Anna Yu. Shcherbina; Щербина Анна Юрьевна

doi:10.24287/1726-1708-2016-15-1-10-16

Molecular genetic diagnosis of primary immunodeficiencies (Review of literature and clinical case reports)

Authors: Kuzmenko N.B.¹, Varlamova T.V.¹, Mersiyanova I.V.¹, Raikina E.V.¹, Bobrynina V.O.², Shcherbina A.Y.¹
Affiliations:
1. Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev
2. ZAO “Genoanalytica”
Issue: Vol 15, No 1 (2016)
Pages: 10-16
Section: ИММУНОЛОГИЯ
Submitted: 19.09.2018
Published: 19.03.2016
URL: https://hemoncim.com/jour/article/view/143
DOI: https://doi.org/10.24287/1726-1708-2016-15-1-10-16
ID: 143

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Abstract

Primary immunodeficiencies (PIDs) form a heterogeneous group of diseases associated with high incidence of infections, autoimmune diseases and malignancies. About 300 genes are known, breakage in which lead to immunodeficiency. Understanding of the mechanisms of inheritance of PID, their characteristics, and the external factors essential for manifestation of the genetic defects makes it possible to predict the clinical manifestations of immunodeficiency at the early stages of diagnosis, determines the treatment strategy, and predicts the probability of healthy progeny in families with a history of the disease. Clinical case reports from the authors' practice illustrate various regularities and phenomena of PIDs inheritance. Sixteen embryos of siblings with genetically determined PID were examined for prenatal diagnosis. The diagnosis of PIDs was confirmed in 4 of 16 embryos. Recommendations on examinations of relatives of patients with PIDs are presented in the article.

Keywords

первичные иммунодефицитные состояния, молекулярно-генетическая диагностика, механизмы наследования, пренатальная диагностика, primary immunodeficiencies, molecular genetic diagnosis, mechanisms of inheritance, prenatal diagnosis

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Molecular genetic diagnosis of primary immunodeficiencies (Review of literature and clinical case reports)

Full Text

Abstract

Keywords

About the authors

Natalya B. Kuzmenko

Tatyana V. Varlamova

Irina V. Mersiyanova

Elena V. Raikina

Vlasta O. Bobrynina

Anna Yu. Shcherbina

References

Supplementary files