Thymus transplantation for DiGeorge Syndrome: a systematic review.

Abstract

Background: DiGeorge syndrome (DGS) is a condition typically associated with athymia, parathyroid hypoplasia or aplasia, and congenital heart defects. Athymia in these patients causes severe immunodeficiency, causing high mortality and morbidity, often requiring thymic tissue transplantation. The present systematic review aims to consolidate the present evidence on thymus transplantation in DGS.

Methods: An electronic literature search of five databases (PubMed, Medline, Scopus, EBSCOhost, and CINAHL) was performed from inception till September 2024. Relevant articles were selected, and data was extracted by two independent reviewers.

Results: A total of 16 articles were included from an initial set of 1227 articles. Patients diagnosed with DGS in the included studies were predominantly male, and the age at which thymus transplantation was done typically varied from 0.8 to 26 months. Several patients had chromosome 22q11 hemizygosity. Thymic tissue was taken from tissues of pediatric patients undergoing cardiothoracic surgery. Pre-transplant medication included immunosuppressants with rabbit anti-thymocyte globulin (RATGAM) being frequently used alongside steroids and tacrolimus. This tissue was cultured and transplanted into the quadriceps muscle of the patients under general anesthesia. Thymopoiesis was well described in most patients with graft failures and rejections occurring rarely. Naive T-cell development was noted in almost all patients with clearance of infections in many cases. Common postoperative complications include sepsis, haemorrhage, gastrointestinal disturbances, among others. Mortality was uncommon but often associated with intracerebral hemorrhages and sepsis.

Conclusion: Thymus transplantation is a relatively safe and effective procedure in patients with DGS with athymia. Future research should explore the addition of allogenic parathyroid gland transplantation along with thymic tissue.