Data for: Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome
The aim of the study was to identify spatial transcriptomic and proteomic differences between thymic tissue from patients with 22q11.2 deletion syndrome and controls. Thymic tissue from two patients with 22q11DS and eight controls were subject to spatial transcriptomics and proteomics using Visium and Phenocycler methodologies, respectively. The dataset contains data from the manuscript "Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome" by Hennings et al, which was submitted for publication in February 2026.
Viktoria Hennings, Jenny Lingman Framme, Karolina Thörn, Christina Lundqvist, Andri Lemarquis, Solveig Oskarsdottir, Esbjörn Telemo, Åsa Björklund, Olov Ekwall (2026) Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome. Accepted for publication, Journal of Human Immunity, https://doi.org/10.70962/jhi.20260011
Department of Pediatrics, Institute of Clinical Sciences
The Swedish governmental funding of clinical research (ALF)
A single, unpaired primary lymphoid organ situated in the MEDIASTINUM, extending superiorly into the neck to the lower edge of the THYROID GLAND and inferiorly to the fourth costal cartilage. It is necessary for normal development of immunologic function early in life. By puberty, it begins to involute and much of the tissue is replaced by fat.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Dysplasia of thymus gland with immunodeficiency
Dysplasia of thymus gland with immunodeficiency (disorder)