Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

E. Yu. Efimova; Ефимова И. Ю.; A. A. Mukhina; Мухина А. А.; N. V. Balinova; Балинова Н. В.; S. A. Matulevich; Матулевич С. А.; D. E. Pershin; Першин Д. Е.; A. L. Khoreva; Хорева А. Л.; A. V. Marakhonov; Марахонов А. В.; S. V. Voronin; Воронин С. В.; R. A. Zinchenko; Зинченко Р. А.; A. Yu. Shcherbina; Щербина А. Ю.; S. I. Kutsev; Куцев С. И.

doi:10.24287/1726-1708-2022-21-4-158-162

Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome

Authors: Efimova E.Y.¹, Mukhina A.A.², Balinova N.V.¹, Matulevich S.A.³, Pershin D.E.², Khoreva A.L.², Marakhonov A.V.¹, Voronin S.V.¹, Zinchenko R.A.¹^,4, Shcherbina A.Y.², Kutsev S.I.¹
Affiliations:
1. N.P. Bochkov Medical Genetic Research Center
2. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
3. Research Institute – S.V. Ochapovsky Regional Clinical Hospital №1
4. N.A. Semashko National Research Institute of Public Health
Issue: Vol 21, No 4 (2022)
Pages: 158-162
Section: CLINICAL OBSERVATIONS
Submitted: 01.11.2022
Accepted: 17.11.2022
Published: 26.12.2022
URL: https://hemoncim.com/jour/article/view/666
DOI: https://doi.org/10.24287/1726-1708-2022-21-4-158-162
ID: 666

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Abstract

One of the main goals of newborn screening is the early detection of a number of severe disorders for which effective treatment is available, and early diagnosis prevents serious consequences. Primary immunodeficiencies (PIDs) are a heterogeneous group of congenital immune disorders and are urgent immunological conditions requiring prompt diagnosis and treatment. Screening for primary immunodeficiencies using T-cell receptor excision circles (TREC) is used in many countries around the world. However, in addition to severe combined immunodeficiency, other forms of PIDs with T cell deficiency such as 22q11.2 deletion syndrome (22q11.2DS), CHARGE syndrome, trisomy 21, etc., can be detected during newborn screening. 22q11.2DS syndrome is one of the most common chromosomal microdeletion syndromes with an estimated prevalence of 1 in 3000–6000 births. The clinical manifestations of 22q11.2DS are quite variable. Neonatal diagnosis is traditionally based on the recognition of classic features and cytogenetic testing but many patients only come to medical attention after later symptoms have been identified. Still, the early diagnosis of 22q11.2DS ensures adequate treatment and the highest possible quality of life in such patients. Here, we report a clinical case of 22q11.2DS syndrome identified during a pilot project of newborn screening for primary immunodeficiencies in the Russian Federation in 2022. The patient’s parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.