Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.

Hsin-Hui YuYin-Hsiu ChienMeng-Yao LuYa-Chiao HuJyh-Hong LeeLi-Chieh WangYu-Tsan LinYao-Hsu YangBor-Luen Chiang

Published in: Journal of clinical immunology (2022)

CHD, major infection, and FTT were common manifestations and poor prognostic factors. Autoimmunity, neuropsychiatric disorders, and hypoparathyroidism were significantly associated. Although T lymphopenia may improve with age, patients with 22q11.2DS require lifelong monitoring for immune dysregulation.

Keyphrases

prognostic factors
copy number
case report
gene expression
type diabetes
metabolic syndrome
glycemic control
skeletal muscle