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ITK deficiency presenting as Autoimmune Lymphoproliferative Syndrome
Journal article   Open access  Peer reviewed

ITK deficiency presenting as Autoimmune Lymphoproliferative Syndrome

Jacqueline G Wallace, Mohammed Alosaimi, Claudia Djambas Khayat, Faris Jaber, Abduarahman Almutairi, Sarah Beaussant-Cohen, Geraldine Pinkus, Mark Fleming, Cybel Mehawej, Janet Chou, …
Journal of allergy and clinical immunology, Vol.147(2), pp.743-745.e1
01/02/2021
PMCID: 7779661
PMID: 32628964

Abstract

autoimmune lymphoproliferative syndrome FAS ligand ITK primary immunodeficiencies
A patient with a novel homozygous mutation in ITK presented with autoimmune lymphoproliferative syndrome, and had impaired TCR-driven Fas ligand upregulation, providing a mechanism for the T cell lymphoproliferation.
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https://doi.org/10.1016/j.jaci.2020.06.019View
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