Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family
Our work aimed to describe the clinical manifestations, genetic characteristics, and diagnosis of these disorders. It is worth emphasizing that the timely diagnosis of not only 22q11.2 deletion syndrome but also other primary immunodeficiencies in the Russian Federation became possible due to the introduction of extended neonatal screening into widespread practice. For such patients, comprehensive early interventional treatment and follow-up by a wide range of specialists is important to improve prognosis and quality of life.
Authors
- G. N. Seitova (ORCID: https://orcid.org/0000-0002-8421-1416)
- Andrey V. Marakhonov (ORCID: https://orcid.org/0000-0002-0972-5118)
- V. Shilova Nadezda
- Elena Raykina
- Р. А. Зинченко (ORCID: https://orcid.org/0000-0003-3586-3458)
- Г.В. Дроздов (ORCID: https://orcid.org/0000-0003-0383-1013)
- I. G. Sermyagina (ORCID: https://orcid.org/0000-0001-9047-1938)
- С. П. Воронин
- Ж.Г. Маркова (ORCID: https://orcid.org/0000-0003-2941-2861)
- Sergey I. Kutsev (ORCID: https://orcid.org/0000-0002-3133-8018)
- Anastasia M. Bobreshova (ORCID: https://orcid.org/0009-0001-3476-053X)
- Daria Bogdanova
- Yulia Rodina (ORCID: https://orcid.org/0000-0001-9857-4456)
- Anna Ogneva
- Dmitrii Orlov
- Dmitry Pershin
- Irina Efimova
- Alexander Polyakov
- Natalya Balinova
- Anna Mukhina
- Daria Zhavoronok
- Anna Shcherbina
- Daria Yukhacheva
Institutions
- Russian Academy of Sciences (RU)
- Tomsk National Research Medical Center (RU)
- Krasnoyarsk Regional Clinical Hospital (RU)
- Research Centre for Medical Genetics (RU)
- Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology (RU)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2026-01-19
- DOI
- https://doi.org/10.1159/000550498
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00