Genetic & Genomic MedicineJournal of Clinical ImmunologyPeer-reviewed
A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD
Henry Y. Lu, Maryam Vaseghi‐Shanjani, Avery J. Lam…·Stuart E. Turvey
The paper describes a germline variant in IKZF2 causing immune dysregulation, including AIHA and atopic dermatitis, and reports single-cell RNA sequencing findings on T cell dysfunction.
6 citations