Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases
These cases underscore the clinical heterogeneity of IEIs and illustrate the essential role of genomic diagnostics in elucidating atypical presentations. Documenting rare variants and unconventional phenotypes enhances global knowledge, elevates awareness in resource-limited regions, and emphasizes the necessity for early, multidisciplinary care and the enhancement of national registries for rare immunogenetic disorders.
Authors
- Aliya A. Romanova (ORCID: https://orcid.org/0009-0000-4483-0493)
- Elena Kovzel (ORCID: https://orcid.org/0000-0002-2383-0264)
- Marina Morenko (ORCID: https://orcid.org/0000-0001-9553-3560)
- Ilyas Akhmetollayev (ORCID: https://orcid.org/0000-0002-6219-4002)
- Nurgul Sikhayeva (ORCID: https://orcid.org/0000-0001-6419-9483)
- Aidos Bolatov (ORCID: https://orcid.org/0000-0002-5390-4623)
- Svetlana Volodchenko (ORCID: https://orcid.org/0000-0002-7577-5172)
- Aiganym B. Toleuzhanova (ORCID: https://orcid.org/0000-0003-1477-8780)
- А. Р. Шакирова
- Gulnar Tortayeva
- Mariya Tagaeva
- Yelena Sagandykova
Institutions
- Shenzhen University (CN)
- National Center for Biotechnology (KZ)
- KazMunayGas (Kazakhstan) (KZ)
- Astana Medical University (KZ)
Publication Details
- Journal
- Genes
- Published
- 2025-10-22
- DOI
- https://doi.org/10.3390/genes16111247
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00