Abstract
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.
- Title
- ITK deficiency presenting as Autoimmune Lymphoproliferative Syndrome
- Creators - without role
- Jacqueline G Wallace - Boston Children's HospitalMohammed Alosaimi - Boston Children's HospitalClaudia Djambas Khayat - Hôtel-Dieu de FranceFaris Jaber - Boston Children's HospitalAbduarahman Almutairi - Boston Children's HospitalSarah Beaussant-Cohen - Boston Children's HospitalGeraldine Pinkus - Brigham and Women's HospitalMark Fleming - Boston Children's HospitalCybel Mehawej - Saint Joseph UniversityJanet Chou - Boston Children's HospitalRaif S Geha - Boston Children's Hospital
- Publication Details
- Journal of allergy and clinical immunology, Vol.147(2), pp.743-745.e1
- Identifiers
- 9945920608331
- Academic Unit
- King Saud University
- Language
- English
- Resource Type
- Journal article