ArticleJournal of clinical immunology2025
Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.
Article in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Allogeneic Hematopoietic Cell Transplantation for Congenital Athymia: A Nationwide Retrospective Study in Japan.Journal of clinical immunology · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.Frontiers in immunology · 2026Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency.
aimTo define the clinical/immunophenotypical biomarkers for DGS. PATIENTS AND
methodsA total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria without deletion (n = 6) were enrolled.
resultsThe male/female ratio was 41/31. Median age at clinical diagnosis was 1.7 years (0 days-22 years) with follow-up for 21.7 months (0 days-17.3 years). Common evaluation reasons were cardiac features (30.6%), failure to thrive (15.3%), and neurological features (15.3%). Craniofacial dysmorphism (64/66, 97%), central nervous system findings (62/72, 86.1%), and congenital cardiovascular defect (43/70, 61.4%) were common. We noted lymphopenia (30/72, 41.7%) and low IgM (25/69, 36.2%). T helper cell counts were low in 49.3% (33/67). T cytotoxic and NK cell counts were normal/high in 80.6% (54/67) and 97% (65/67) of patients, respectively. 42.3% (11/26) had low CD4 + TEMRA, and 34.6% (9/26) had low CD8 + TEM percentages. None had low CD8 + TEMRA. B cells were normal/high (52/67, 77.6%). 30.8%(8/26) had low switched-memory and 38.5% (10/26) had low active B cell percentages. Low IgA levels were associated with decreased lymphocyte activation and recent thymic emigrant (RTE) cell percentages. Six(8.3%) patients with lymphopenia, three of whom had congenital athymia, died.
conclusionCD4 lymphopenia was more common than CD8 lymphopenia. Normal/high CD8 + and NK cell counts were remarkable. Increased CD8+ TEMRA cells seem to indicate peripheral homeostatic proliferation following viral infections. Low serum IgA correlated with low RTE% and impaired T-cell function. DGS severity markers include hypocalcemia, congenital cardiac anomaly, and T-cell lymphopenia.
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