Open AccessCommon Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS
Author(s) -
Ebru Yılmaz,
Hye Sun Kuehn,
Eda Odakir,
Julie E. Niemela,
Alper Özcan,
Ahmet Eken,
Meino Rohlfs,
Murat Cansever,
Veysel Gök,
Fuat Aydın,
Musa Karakükçü,
Fabian Hauck,
Christoph Klein,
Ekrem Ünal,
Sergio D. Rosenzweig,
Türkan Patıroğlu
Publication year - 2020
Publication title -
journal of pediatric hematology/oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.388
H-Index - 78
eISSN - 1536-3678
pISSN - 1077-4114
DOI - 10.1097/mph.0000000000001976
Subject(s) - cytopenia , common variable immunodeficiency , pancytopenia , autoimmune hemolytic anemia , medicine , missense mutation , immunodeficiency , primary immunodeficiency , immunology , mutation , phenotype , immune system , genetics , biology , antibody , gene , bone marrow
Mutations in IKZF1, which encodes Ikaros family zinc finger 1 (IKAROS) transcription factor, are associated with recurrent infections, cytopenia, autoimmune diseases, and hematologic malignancies. Diverse clinical phenotypes resulting from IKZF1 mutations include pulmonary fungal infections, cytopenia, autoimmune hemolytic anemia (AIHA), and malignancies. In this study, we aimed to assess the DNA-binding ability and pericentromeric (PC) localization of a variant of IKZF discovered in a patient.