Recurrent infections and immunodeficiency in a patient
with Sanfilippo syndrome (MPS type 3)

Öner Özdemir; Kübra Tokmak

doi:10.5114/pja.2026.159580

eISSN: 2391-6052
ISSN: 2353-3854

Alergologia Polska - Polish Journal of Allergology

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1/2026
vol. 13

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Opis przypadku

Recurrent infections and immunodeficiency in a patient with Sanfilippo syndrome (MPS type 3)

Öner Özdemir

¹

,

Kübra Çevik Tokmak

¹

Division of Allergy and Immunology, Department of Pediatrics, Research and Training Hospital of Sakarya, Sakarya University Medical Faculty, Adapazarı, Sakarya, Türkiye

DOI: https://doi.org/10.5114/pja.2026.159580

Data publikacji online: 2026/02/27

Plik artykułu:

- Recurrent infections.pdf [0.40 MB]

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Metryki PlumX:

1. Cyske Z, Anikiej-Wiczenbach P, Wisniewska K, et al. Sanfilippo syndrome: optimizing care with a multidisciplinary approach. J Multidiscip Healthc 2022; 15: 2097-110.

2. Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 2013; 102: 462-70.

3. Lavery C, Hendriksz CJ, Jones SA. Mortality in patients with Sanfilippo syndrome. Orphanet J Rare Dis 2017; 12: 168.

4. Wagner VF, Northrup H. Mucopolysaccharidosis type III. In: GeneReviews®. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. Seattle (WA): University of Washington, Seattle 2019.

5. Parker H, Bigger BW. The role of innate immunity in mucopolysaccharide diseases. J Neurochem 2019; 148: 639-51.

6. Mandolfo O, Parker H, Bigger B. Innate immunity in mucopolysaccharide diseases. Int J Mol Sci 2022; 23: 1999.

7. Watts C. Lysosomes and lysosome-related organelles in immune responses. FEBS Open Bio 2022; 12: 678-93.

8. Rigante D, Cipolla C, Basile U, Gulli F, Savastano MC. Overview of immune abnormalities in lysosomal storage disorders. Immunol Lett 2017; 188: 79-85.

9. Wiesinger AM, Bigger B, Giugliani R, Lampe C, Scarpa M, Moser T. Development of a novel tool for individual treatment trials in mucopolysaccharidosis. J Inherit Metab Dis 2025; 48: e12816.

10. Lopes N, Maia ML, Pereira CS, Mondragão-Rodrigues I, Martins E, Ribeiro R. Leukocyte imbalances in mucopolysaccharidoses patients. Biomedicines 2023; 11: 1699.

11. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010; 5: 5.

12. Rajkumar V, Dumpa V. Lysosomal Storage Disease. 2023. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2025.

13. Rigante D, Cipolla C, Basile U, Gulli F, Savastano MC. Overview of immune abnormalities in lysosomal storage disorders. Immunol Lett 2017; 188: 79-85.

Copyright: © Polish Society of Allergology This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No Derivatives 4.0 International (CC BY-NC-SA 4.0). License (http://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.

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Recurrent infections and immunodeficiency in a patient with Sanfilippo syndrome (MPS type 3)

Öner Özdemir 1 , Kübra Çevik Tokmak 1

Öner Özdemir

¹

,

Kübra Çevik Tokmak

¹