Data Availability
Data obtained during the study are available from the corresponding author on reasonable request.
References
Karnell JL, Rieder SA, Ettinger R, Kolbeck R. Targeting the CD40-CD40L pathway in autoimmune diseases: humoral immunity and beyond. Adv Drug Deliv Rev. 2019;141:92–103.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, et al. The hyper IgM syndromes: epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin Immunol. 2019;198:19–30.
Mehling A, Loser K, Varga G, Metze D, Luger TA, Schwarz T et al (2001) Overexpression of Cd40 ligand in murine epidermis results in chronic skin inflammation and systemic autoimmunity. J Exp Med 615–28. https://doi.org/10.1084/jem.194.5.615
Sun D, Le Coz C, Bunin N, Romberg N (2021) Hematopoietic stem cell transplantation successfully treats CD40LG duplication. J Clin Immunol 1668–70. https://doi.org/10.1007/s10875-021-01085-5
Le Coz C, Trofa M, Syrett CM, Martin A, Jyonouchi H, Jyonouchi S, et al. CD40LG duplication-associated autoimmune disease is silenced by nonrandom X-chromosome inactivation. J Allergy Clin Immunol. 2018;141:2308-11.e7.
Acknowledgements
Consortium information
Consortium “CD40L consortium” members: Pirjo Åström1, Outi Kuismin2
1Research Unit of Biomedicine, University of Oulu, Oulu, Finland
2Department of Clinical Genetics, PEDEGO Research Unit, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland
Funding
This study was supported by Oulu University Hospital VTR.
Author information
Authors and Affiliations
Consortia
Contributions
WS, NP, VG, PÅ: laboratory analysis, writing
OK: Genetic analysis, writing
TH: patient care, study design, writing
Corresponding author
Ethics declarations
Ethics Approval
This study has been completed according to principles of the Helsinki Declaration. The study has been approved by Oulu University Hospital Ethics committee.
Consent to Participate
Informed consent to participate was obtained from the patient.
Consent to Publish
Informed consent to publish was obtained from the patient.
Competing Interests
The authors declare no competing interests.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Santaniemi, W., Pernaa, N., Glumoff, V. et al. CD40LG Triplication Associates with Immune Dysregulation and Exhaustion. J Clin Immunol 43, 323–326 (2023). https://doi.org/10.1007/s10875-022-01392-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10875-022-01392-5