Sevgi Bilgic Eltan, Ercan Nain, Mehmet Cihangir Catak, Ege Ezen, Asena Pınar Sefer, Nastaran Karimi, Ayca Kiykim, Burcu Kolukisa, Dilek Baser, Alper Bulutoglu, Nurhan Kasap, Melek Yorgun Altunbas, Ezgi Yalcin Gungoren, Yasemin Kendir Demirkol, Seyhan Kutlug, Gonca Hancioglu, Fatih Dilek, Alisan Yildiran, Ahmet Ozen, Elif Karakoc-Aydiner, Batu Erman, Safa Baris
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 ICF1 and ICF2 patients. We performed detailed immunological evaluation, including lymphocyte subset analyses, upregulation, and proliferation of T cells...
December 22, 2023: Journal of Clinical Immunology