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. 2022 Jan;149(1):445-450.
doi: 10.1016/j.jaci.2021.06.007. Epub 2021 Jun 16.

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

T Blaine Crowley  1 , Ian M Campbell  2 , Emily J Liebling  3 , Michele P Lambert  4 , Lorraine E Levitt Katz  5 , Jennifer Heimall  6 , Alice Bailey  1 , Daniel E McGinn  1 , Donna M McDonald McGinn  1 , Kathleen E Sullivan  7
Affiliations

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

T Blaine Crowley et al. J Allergy Clin Immunol. 2022 Jan.

Abstract

Background: Identification of biomarkers associated with immune-mediated diseases in 22q11.2 deletion syndrome is an evolving field.

Objectives: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: DiGeorge; atopy; autoimmunity; dysregulation; homeostatic proliferation.

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Conflict of interest statement

Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.

Figures

FIG 1.
FIG 1.
Autoimmune cohorts within the 22q11.2del population. Three cohorts with autoimmune thyroid disease, JRA, or ITP were studied. Cell populations are displayed as absolute counts according to age. The lines represent the regression curves for each cohort. Individual data points for the comparator group are not shown to improve viewing.
FIG 2.
FIG 2.
Atopic cohorts within the 22q11.2del population. Three cohorts with asthma, food allergy, and atopic dermatitis were studied. Cell populations are displayed as absolute counts according to age. The lines represent the regression curves for each cohort. Individual data points for the comparator group are not shown to improve viewing.
See this image and copyright information in PMC

References

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