To evaluate if the severity of T-cell lymphopenia is associated with immune dysregulation, such as autoimmunity and asthma, in patients with DiGeorge syndrome (DGS) and/or TBX1 mutation.

In this study, researchers included 415 patients with DGS and/or TBX1 mutations from the US Immunodeficiency Network registry. Patients with complete and atypical complete DGS were excluded. The median age was 4.6 years (range: 0–45 years).

This was a retrospective analysis of 415 patients with DGS and/or TBX1 mutations from the US Immunodeficiency Network registry. Patients were stratified on the basis of severity of initial absolute CD3+ T cells. The rate of infections, autoimmunity, and atopic disease were compared by using χ2 tests and multivariate logistic regression.

In this DGS cohort, the median absolute CD3+ T-cell count was 1424 (range: 85–6371 cells/μl). Among the 415 DGS patients, 25% reported congenital heart disease, 4.1% reported autoimmunity, and 6.7% reported asthma. Absolute...

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