. 2023 Jan 17;43(2):247–270. doi: 10.1007/s10875-022-01418-y

Table 1.

Proposed terminology of 22q11.2del in association with T cell lymphopenia

Updated terminology	Previous terminology
22q11.2del^a without T cell lymphopenia	DiGeorge without T cell lymphopenia
22q11.2del^a with T cell lymphopenia (mild, significant)	Partial DiGeorge
22q11.2del^a with congenital athymia	Complete DiGeorge
22q11.2del^a with congenital athymia and autologous immune dysregulation (Omenn-like syndrome)	Atypical (complete) DiGeorge

^aReplace use of 22q11.2del with DiGeorge syndrome when the genetic defect cannot be identified (or another specific causative genetic defect if distinct from 22q11.2del)