ITK deficiency presenting as Autoimmune Lymphoproliferative Syndrome

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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Pubblicato in:J Allergy Clin Immunol
Autori principali: Wallace, Jacqueline G, Alosaimi, Mohammed, Khayat, Claudia Djambas, Jaber, Faris, Almutairi, Abduarahman, Beaussant-Cohen, Sarah, Pinkus, Geraldine, Fleming, Mark, Mehawej, Cybel, Chou, Janet, Geha, Raif S
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7779661/
https://ncbi.nlm.nih.gov/pubmed/32628964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2020.06.019
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