Letter to the EditorA novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
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Cited by (32)
Signaling pathways and regulation of gene expression in hematopoietic cells
2023, Advances in Biological RegulationCitation Excerpt :In 2012, the first IKZF1 germline point mutation was described in a child born with severe combined immunodeficiency (SCID) and was found to have congenital pancytopenia as well as B/NK lymphopenia (Goldman et al., 2012). Subsequent studies identified additional children with different germline mutations at the IKZF1 gene (Berron-Ruiz, 2017) (Bigley et al., 2019) (Bogaert et al., 2018). These children had differing primary immunodeficiency phenotypes depending on the location of mutations at the IKZF1 gene (Boutboul et al., 2018) (Eskandarian et al., 2019) (Kuehn et al., 2016).
Combined T and B Lymphocyte Deficiencies
2022, Encyclopedia of Infection and ImmunityAutoimmunity in combined immunodeficiency
2022, Translational Autoimmunity: Autoimmune Disease Associated with Different Clinical FeaturesInborn errors of IKAROS and AIOLOS
2021, Current Opinion in ImmunologyThe New “Wholly Trinity” in the Diagnosis and Management of Inborn Errors of Immunity
2021, Journal of Allergy and Clinical Immunology: In PracticeCitation Excerpt :These include either haploinsufficiency or dominant negative effects for an autosomal dominant variant in the same gene. Heterozygous pathogenic variants in the IKZF1 gene, encoding the B-cell transcription factor, Ikaros, were first described as causing an autosomal dominant B-cell deficiency,33 supported by a later report also demonstrating that haploinsufficiency in this gene was associated with late-onset and variable B-cell defects.34 A following study showed that dominant negative variants in IKZF1 resulted in a combined (B- and T-cell, myeloid subsets) immunodeficiency.35
Supported by the Ghent University Hospital Spearhead Initiative for Immunology Research and the National Institutes of Health Clinical Center intramural research program.
Disclosure of potential conflict of interest: D. J. Bogaert received a PhD fellowship grant from Research Foundation Flanders (FWO) for this work. U. Cytlak's and V. Bigley's institutions received grant 101155/Z/13/Z from the Wellcome Trust for this work. E. De Baere personally received grants from Research Foundation Flanders (FWO, Senior Clinical Investigator), grant number BOF15/GOA/011 from the Ghent University Special Research Fund, and grant number AUGE/13/023 from the Hercules Foundation for this work. F. Haerynck personally received a grant from the Jeffrey Modell Foundation (JMF) for this work. The rest of the authors declare that they have no relevant conflicts of interest.
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These authors contributed equally to this work.