Article
IKAROS regulates human T cell phenotype at a thymic and postthymic level.
JCI insight - 22 Dec 2025
Stoddard Jennifer, Kuehn Hye Sun, Tagirasa Ravichandra, Bosticardo Marita, Pala Francesca, Niemela Julie E, Gil Silva Agustin A, Amini Kayla, Anaya Eduardo, Framil Seoane Mario, Bouso Carolina, Dimitrova Dimana, Kanakry Jennifer A, Alsina Laia, Oleastro Matias, Holland Steven M, Fleisher Thomas A, Wasserman Richard L, Notarangelo Luigi D, Rosenzweig Sergio D
Abstract excerpt
The transcription factor IKAROS, encoded by IKZF1, is crucial for lymphocyte development and differentiation. Germline heterozygous IKZF1 mutations cause B cell immunodeficiency, but also affect T cells. Patients with IKZF1 haploinsufficiency (HI) or dimerization-defective (DD) variants show reduced naive and increased memory T cells, while dominant-negative (DN) mutations result in the opposite phenotype....
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