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Background <p>DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency.</p> Aim <p>To define the clinical/immunophenotypical biomarkers for DGS.</p> Patients and Methods <p>A total of 72 patients with 22q11.2 deletion(<i>n</i> = 66) and those fulfilling the DGS criteria without deletion (<i>n</i> = 6) were enrolled.</p> Results <p>The male/female ratio was 41/31. Median age at clinical diagnosis was 1.7&#xa0;years (0&#xa0;days-22&#xa0;years) with follow-up for 21.7&#xa0;months (0&#xa0;days-17.3&#xa0;years). Common evaluation reasons were cardiac features (30.6%), failure to thrive (15.3%), and neurological features (15.3%). Craniofacial dysmorphism (64/66,&#xa0;97%), central nervous system findings (62/72,&#xa0;86.1%), and congenital cardiovascular defect (43/70,&#xa0;61.4%) were common. We noted lymphopenia (30/72,&#xa0;41.7%) and low IgM (25/69,&#xa0;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,&#xa0;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.</p> Conclusion <p>CD4 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.</p> Graphical Abstract <p></p>

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Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月3日

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  • Merve Süleyman,
  • Deniz Cagdas,
  • Pelin Özlem Şimşek Kiper,
  • Gülen Eda Ütine,
  • Merve Kaşıkcı Çavdar,
  • Feyzi İlhan Tezcan

摘要

Background

DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency.

Aim

To define the clinical/immunophenotypical biomarkers for DGS.

Patients and Methods

A total of 72 patients with 22q11.2 deletion(n = 66) and those fulfilling the DGS criteria without deletion (n = 6) were enrolled.

Results

The 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.

Conclusion

CD4 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.

Graphical Abstract