1. STAT1 Gain-of-Function Leading to Clinical Behçet's Syndrome.
- Author
-
Aluri, Jahnavi, Schmitt, Erica G., Du, Matthew, STAT1 Behçet's working group, Kolicheski, Ana, Coughlin, Carrie C., Saucier, Nermina, Zimmerman, Ofer, and Cooper, Megan A.
- Subjects
- *
STAT proteins , *BEHCET'S disease , *MONONUCLEAR leukocytes - Abstract
The patient subsequently developed genital ulcers, and met clinical criteria for Behçet's syndrome (recurrent oral aphthous ulcers, genital ulceration, skin features). B Cutaneous ulcerations demonstrating pathergy (left), periungual lesion (middle), and an ulcerative scalp lesion (right) C-D Immunophenotyping of patient cells demonstrated C increased frequency of CD4-CD8- TCR + T cells (gated on CD3 + TCR / + cells). 1Clinical features of patient with Behçet's syndrome and STAT1 functional testing. In the largest published cohort of STAT1 GOF patients (247 patients), 98% had CMC [[1]], however other clinical symptoms can vary, even with the same variant. [Extracted from the article]
- Published
- 2023
- Full Text
- View/download PDF