Article
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Journal of clinical immunology - 22 Dec 2023
Bilgic Eltan Sevgi, Nain Ercan, Catak Mehmet Cihangir, Ezen Ege, Sefer Asena Pınar, Karimi Nastaran, Kiykim Ayca, Kolukisa Burcu, Baser Dilek, Bulutoglu Alper, Kasap Nurhan, Yorgun Altunbas Melek, Yalcin Gungoren Ezgi, Kendir Demirkol Yasemin, Kutlug Seyhan, Hancioglu Gonca, Dilek Fatih, Yildiran Alisan, Ozen Ahmet, Karakoc-Aydiner Elif, Erman Batu, Baris Safa
Abstract excerpt
PURPOSE: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. The detailed immune responses are not explored widely. We investigated known and novel immune alterations in lymphocyte subpopulations and their association with clinical symptoms in a well-defined ICF cohort. METHODS: We recruited the clinical findings from twelve...
Topics
- Primary Immunodeficiency Diseases
- Mutation
- CD8-Positive T-Lymphocytes
- Immunologic Deficiency Syndromes
- Repressor Proteins
- Face
- Humans