Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases

• Published in: Journal of allergy and clinical immunology Vol. 149; no. 1; pp. 445 - 450
• Main Authors: Crowley, T. Blaine, Campbell, Ian M., Liebling, Emily J., Lambert, Michele P., Levitt Katz, Lorraine E., Heimall, Jennifer, Bailey, Alice, McGinn, Daniel E., McDonald McGinn, Donna M., Sullivan, Kathleen E.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2022
• Subjects: Adolescent; Adult; atopy; Autoimmune Diseases - immunology; autoimmunity; CD4 Lymphocyte Count; CD4-Positive T-Lymphocytes - immunology; Child; Child, Preschool; DiGeorge; DiGeorge Syndrome - immunology; dysregulation; Female; homeostatic proliferation; Humans; Hypersensitivity, Immediate - immunology; Infant; Male; Phenotype; Young Adult; autoimmunity; ITP; atopy; dysregulation; JRA; DiGeorge; homeostatic proliferation; 22q11.2del
• ISSN: 0091-6749; 1097-6825; 1097-6825
• DOI: 10.1016/j.jaci.2021.06.007

Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field. We sought to use a carefully phenotyped cohort to study immune parameters associated with autoimmunity and atopy in 22q11.2 deletion syndrome to define biomarkers associated with immune-mediated disease in this syndrome. Chart review validated autoimmune disease and atopic condition diagnoses. Laboratory data were extracted for each subcohort and plotted according to age. A random-effects model was used to define statistical significance. CD19, CD4, and CD4/45RA lymphocyte populations were not different from the general cohort for patients with atopic conditions. CD4/45RA T cells were significantly lower in the subjects with immune thrombocytopenia compared with the general cohort, and CD4 T-cell counts were lower in patients with autoimmune thyroid disease. The mechanisms of autoimmunity in cytopenias may be distinct from those of solid-organ autoimmunity in 22q11.2 deletion syndrome. This study identifies potential biomarkers for risk stratification among commonly obtained laboratory studies.