Vnitr Lek 2026, 72(3):151-157 | DOI: 10.36290/vnl.2026.033

Recent advances in primary immunodeficiencies

Ondřej Vladyka1,*, Katarína Simonová1,*, Martin Orlický1,*, Adam Klocperk1
1 Ústav imunologie 2. LF UK a FN Motol a Homolka, Praha
* Tito autoři přispěli k vzniku článku stejnou měrou a sdílí první autorství. Jejich pořadí bylo určeno náhodně a může být referováno v libovolném pořadí.

The article summarises key recent developments in the field of primary immunodeficiencies, now preferentially referred to as inborn errors of immunity (IEI). It is based on the current International Union of Immunological Societies (IUIS) classification, which reflects the rapidly increasing number of described entities, and highlights the shift from an "infection-centred" perspective to a broad spectrum of manifestations including autoimmunity, allergy, autoinflammation, and malignancies. Using selected examples of newly described conditions, it illustrates phenotypic diversity and diagnostic challenges, including incomplete penetrance, mosaicism, and phenocopies driven by autoantibodies. The article also discusses the importance of multidisciplinary, centralised care and the role of international collaboration. A dedicated section addresses the implementation of newborn screening for SCID in the Czech Republic and the subsequent benefits of early causal treatment (hematopoietic stem cell transplantation (HSCT), gene therapy, thymus transplantation). Finally, it outlines emerging diagnostic trends (artificial intelligence, polygenic inheritance) and emphasises the need for high-quality transition of care as the number of adults living with IEI continues to grow.

Keywords: immunodeficiencies, inborn errors of immunity, news, screening, transition care, diagnosis.

Accepted: April 23, 2026; Published: May 18, 2026  Show citation

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Vladyka O, Simonová K, Orlický M, Klocperk A. Recent advances in primary immunodeficiencies. Vnitr Lek. 2026;72(3):151-157. doi: 10.36290/vnl.2026.033.
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