A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD
Henry Y. Lu, Maryam Vaseghi‐Shanjani, Avery J. Lam, Mehul Sharma, Arezoo Mohajeri, Leandro Buffoni Roque da Silva, Jana K. Gillies, Gui Xiang Yang, Susan Xiaoqin Lin, Maggie P. Fu, Areesha Salman, Ronak Rahmanian, Linlea Armstrong, Jessica Halparin, Connie L. Yang, , 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.
Journal of Clinical Immunology · Apr 28, 2025Peer-reviewedGenetic & Genomic Medicine