Decreased IL-17–producing TH cells as a diagnostic marker for STAT signaling–related primary immunodeficiencies
T<sub>H</sub>17 measurement demonstrated high sensitivity for detecting P/LP variants of <i>STAT3</i>, <i>DOCK8</i>, or <i>STAT1</i>. Although T<sub>H</sub>17 measurement is a valuable screening tool for excluding patients with P/LP variants in these genes, molecular genetics remains essential for a definitive diagnosis.
Authors
- Siobhan O. Burns (ORCID: https://orcid.org/0000-0002-3356-9506)
- Emese Ilyésné Molnár (ORCID: https://orcid.org/0000-0002-4136-6135)
- Fariba Tahami
- Matthew Buckland (ORCID: https://orcid.org/0000-0002-5646-4707)
- Hajnalka Andrikovics (ORCID: https://orcid.org/0000-0002-8368-9784)
- Kimberly Gilmour (ORCID: https://orcid.org/0000-0003-0285-3958)
- Gábor Kovács (ORCID: https://orcid.org/0000-0002-6279-5131)
- Sofia Grigoriadou (ORCID: https://orcid.org/0000-0002-9863-425X)
Institutions
- Semmelweis University (HU)
- Royal Free London NHS Foundation Trust (GB)
- Barts Health NHS Trust (GB)
Publication Details
- Journal
- Journal of Allergy and Clinical Immunology Global
- Published
- 2025-11-16
- DOI
- https://doi.org/10.1016/j.jacig.2025.100603
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80