Inborn errors of IKAROS and AIOLOS

• Published in: Current opinion in immunology Vol. 72; pp. 239 - 248
• Main Authors: Yamashita, Motoi, Morio, Tomohiro
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.10.2021
• Subjects: Animals; Biomarkers; Disease Management; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation; Humans; Ikaros Transcription Factor - deficiency; Ikaros Transcription Factor - genetics; Ikaros Transcription Factor - metabolism; Immune System Diseases - diagnosis; Immune System Diseases - etiology; Immune System Diseases - metabolism; Immune System Diseases - therapy; Infections - diagnosis; Infections - etiology; Infections - therapy; Phenotype
• ISSN: 0952-7915; 1879-0372; 1879-0372
• DOI: 10.1016/j.coi.2021.06.010

IKAROS is a pioneer protein of the IKZF family of transcription factors that plays an essential role in lymphocyte development. Recently, inborn errors of IKAROS have been identified in patients with B cell deficiency and hypogammaglobulinemia, and these patients often present with recurrent sinopulmonary infection. Autoimmunity and hematologic malignancies are other characteristic complications seen in the patients with IKAROS deficiency. Missense mutation involving asparagine at the 159th position results in combined immunodeficiency, often presenting with Pneumocystis jirovecii pneumonia. Inborn errors of AIOLOS, HELIOS, and PEGASUS have also been reported in patients with B cell deficiency, Evans syndrome, and hereditary thrombocytopenia, respectively. Here, we briefly review the phenotype and genotype of IKZF mutations, especially IKAROS.