Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections

While T cell numbers can often normalize in patients with 22q11.2 Deletion Syndrome, our data indicate significantly altered function as defined by differentially expressed genes and aligned with what is known about T cell senescence. The effect was greatest in the patients with recurrent infection. This would be expected to impact T cell function and may account for ongoing symptoms, reduced B cell maturation, and possibly the risk of immune dysregulation.

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Publication Details

Journal
Journal of Clinical Immunology
Published
2026-02-03
DOI
https://doi.org/10.1007/s10875-026-01987-2
Primary Topic
Congenital heart defects research
Type
article
Field-Weighted Citation Impact
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article

Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections

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Journal of Clinical Immunology
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article

Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections

Montana Knight, Bekah Wang, Audrey Green, Kelly Maurer, Victoria Giunta, Daniel E. McGinn, Kathleen E. Sullivan, Katherine Beigel, Nouf Alsaati, Donna M. McDonald-McGinn, T. Blaine Crowley, Sarah E. Henrickson
article en

Abstract

While T cell numbers can often normalize in patients with 22q11.2 Deletion Syndrome, our data indicate significantly altered function as defined by differentially expressed genes and aligned with what is known about T cell senescence. The effect was greatest in the patients with recurrent infection. This would be expected to impact T cell function and may account for ongoing symptoms, reduced B cell maturation, and possibly the risk of immune dysregulation.

Journal of Clinical ImmunologyVol. 46(1)
Children's Hospital of Philadelphia (US), Sullivan University (US)
Openalex Percentile: Top 71%
Congenital heart defects research
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