Inborn error of immunity due to NK cell deficiency and aggressive juvenile periodontitis. Case report
Keywords:
NK cells; inborn errors of immunity; aggressive periodontitisAbstract
Introduction: Inborn errors of immunity due to classical NK cell deficiency are rare entities associated with severe herpesvirus infections and susceptibility to oncoproliferative processes. These cells participate in the immunopathogenesis of aggressive periodontitis through their pro-inflammatory and cytotoxic effects.
Case presentation: A 16-year-old adolescent with a clinical and radiological diagnosis of juvenile aggressive periodontitis was referred to an immunology clinic. Immunological studies showed normal levels of immunoglobulins and T and B lymphocyte subpopulations, but a complete absence of circulating NK cells (CD3-CD16+/CD56+: 0% in two serial determinations). The patient received immunomodulatory and periodontal treatment, with improvement in recurrent infections, but the disease continues to show clinical signs of progressive activity. Conclusions: This association could contribute to bridging the diagnostic gap of inborn errors of immunity in the comprehensive evaluation of patients with early-onset, atypical, destructive periodontal diseases.
Downloads
References
1. Poli MC, Aksentijevich I, Aziz Bousfiha A, Cunningham-Rundles CH, Hambleton S, Klein CH, et al. Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. J Hum Immun [Internet]. 2025 [citado 20/10/2025]; 1 (1): e20250003. Disponible en: https://rupress.org/jhi/article/1/1/e20250003/277390/Human-inborn-errors-of-immunity-2024-update-on-the
https://doi.org/10.70962/jhi.20250003.
2. Orange JS. How I Manage Natural Killer Cell Deficiency. J Clin Immunol [Internet]. 2020 [citado 20/10/2025]; 40(1): [aprox. 3p.]. Disponible: https://pmc.ncbi.nlm.nih.gov/articles/PMC7223544
https://doi.org/10.1007/s10875-019-00711-7
3. Mace EM, Orange JS. Emerging insights into human health and NK cell biology from the study of NK cell deficiencies. Immunol Rev [Internet]. 2019 [citado 20/10/2025]; 287(1): [aprox. 3p]. Disponible: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310041/
10.1111/imr.12725
4. Abdalgani M, Hernández ER, Pedroza LA, Chinn IK, Forbes Satter LR, Rider NL, et al. Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency. J Allergy Clin Immunol [Internet]. 2025 [citado 20/10/2025];155(5):[aprox. 2p]. Disponible: https://www.jacionline.org/article/S0091-6749(25)00119-8/fulltext
https://doi.org/10.1016/j.jaci.2025.01.030.
5. Fine DH, Schreiner H, Diehl SR. A Rose by Any Other Name: The Long Intricate History of Localized Aggressive Periodontitis. Pathogens [Internet]. 2024 [citado 20/10/2025]; 13(10):[aprox. 2p.]. Disponible: https://www.mdpi.com/2076-0817/13/10/849
https://doi.org/10.3390/pathogens13100849
6. Napiórkowska-Baran K, Darwish S, Kaczor J, Treichel P, Szymczak B, Szota M, et al. Oral Diseases as a Manifestation of Inborn Errors of Immunity. J Clin Med [Internet]. 2024 [citado 20/10/2025]; 13(17):[aprox. 3p.]. Disponible: https://pubmed.ncbi.nlm.nih.gov/39274292
https://doi.org/10.3390/jcm13175079
7. Nibali L, Bayliss-Chapman J, Halai H, Somani C, Davies J, et al. Periodontal status in children with primary immunodeficiencies. J Periodontal Res [Internet]. 2021 [citado 20/10/2025]; 56(4): [aprox. 3p.]. Disponible en: https://onlinelibrary.wiley.com/doi/10.1111/jre.12880
https://doi.org/10.1111/jre.12880
8. Vargas-Hernández A, Forbes LR. The Impact of Immunodeficiency on NK Cell Maturation and Function. Curr Allergy Asthma Rep [Internet]. 2019 [citado 20/10/2025]; 19(1):[aprox. 2p.]. Disponible:
https://link.springer.com/article/10.1007/s11882-019-0836-8
https://doi.org/10.1007/s11882-019-0836-8
9. Akar-Ghibril N. Defects of the Innate Immune System and Related Immune Deficiencies. Clin Rev Allergy Immunol [Internet]. 2022 [citado 20/10/2025]; 63(1): [aprox. 3p.]. Disponible:https://link.springer.com/article/10.1007/s12016-021-08885-y
https://doi.org/10.1007/s12016-021-08885-y
10. Jiang H, Jiang J. Balancing act: the complex role of NK cells in immune regulation. Front Immunol [Internet]. 2023 [citado 20/10/2025]; 14: [aprox. 2p.].Disponible: https://pmc.ncbi.nlm.nih.gov/articles/PMC10652757/pdf/fimmu-14-1275028.pdf
https://doi.org/10.3389/fimmu.2023.1275028
11. Björkström NK, Strunz B, Ljunggren HG. Natural killer cells in antiviral immunity. Nat Rev Immunol [Internet]. 2022 [citado 20/10/2025]; 22(2):[aprox. 2p.]. Disponible: https://pubmed.ncbi.nlm.nih.gov/34117484
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2026 Valia Concepción Ulloa, Ana Iris Gómez Martínez, Ernesto Caraballosa Yero

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who have publications with this journal agree to the following terms:
- Authors will retain their copyright and assign to the journal the right of first publication of their work, which will simultaneously be subject to a Creative Commons License / Attribution-Noncommercial 4.0 International (CC BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
- Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g., depositing it in an institutional repository or publishing it in a monographic volume) as long as the initial publication in this journal is indicated.
- Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which can produce interesting exchanges and increase citations of the published work. (See The effect of open access).




september 1, 2026