Opinion paper: effectiveness of sirolimus in treating partial Di George syndrome with autoimmune lymphoproliferative syndrome-like features.
| Autor: | van der Werff Ten Bosch J; Department of Pediatrics, Paola Kinderziekenhuis, Antwerpen, Belgium.; Department of Medical Hematology, Oncology, HUDERF, Brussels, Belgium. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in pediatrics [Front Pediatr] 2023 Nov 23; Vol. 11, pp. 1242652. Date of Electronic Publication: 2023 Nov 23 (Print Publication: 2023). |
| DOI: | 10.3389/fped.2023.1242652 |
| Abstrakt: | Di George syndrome is a disorder well known by pediatricians, caused by deletions in chromosome 22q11.2 and presenting with a wide range of clinical abnormalities, including immunodeficiency. Thymic function is diminished, leading to a decreased output of naive T cells (naïve T-helper cells, naïve T-regulatory cells, naïve cytotoxic T cells) as compared to healthy age matched controls. Immunedysregulation, such as autoimmunity and immunoproliferation are common in these patients, because the lack of a correctly functioning T cell repertoire. treatment of these complication are a challenge in many immunodeficiencies, including Di George syndrome. Gu et al. discuss a case of a patient with 22q11 deletion and lymphoproliferation and treated successfully with Sirolimus. This opinion paper highlights the need to collect information on the treatment of patients with immunoproliferation through sharing of information of individual cases and international cooperation. Competing Interests: The author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (© 2023 van der Werff ten Bosch.) |
| Databáze: | MEDLINE |
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