Article
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Allergy - 1 Mar 2022
Kolukisa Burcu, Baser Dilek, Akcam Bengu, Danielson Jeffrey, Bilgic Eltan Sevgi, Haliloglu Yesim, Sefer Asena Pinar, Babayeva Royale, Akgun Gamze, Charbonnier Louis-Marie, Schmitz-Abe Klaus, Kendir Demirkol Yasemin, Zhang Yu, Gonzaga-Jauregui Claudia, Jimenez Heredia Raul, Kasap Nurhan, Kiykim Ayca, Ozek Yucel Esra, Gok Veysel, Unal Ekrem, Pac Kisaarslan Aysenur, Nepesov Serdar, Baysoy Gokhan, Onal Zerrin, Yesil Gozde, Celkan Tulin Tiraje, Cokugras Haluk, Camcioglu Yildiz, Eken Ahmet, Boztug Kaan, Lo Bernice, Karakoc-Aydiner Elif, Su Helen C, Ozen Ahmet, Chatila Talal A, Baris Safa
Abstract excerpt
BACKGROUND: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of...
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