ReviewClinical and experimental immunology2023
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
Review in Clinical and experimental immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 56 citations in OpenAlex.
- ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling.Journal of human immunity · 2026Article
- Complementary ROC-Derived Indices for Screening Improper Expression Profiles in RNA-Seq Differential Expression Analysis.Balkan medical journal · 2026Article
- Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.EBioMedicine · 2026Article
- Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.Blood advances · 2026Article
- Article
- Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025Review
- Review
- Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.PLoS genetics · 2025Article
- IKZF-associated inborn errors of immunity.Journal of human immunity · 2025Review
- Discovery of a germline IKZF1 deletion in a B-lymphoblastic leukemia post-induction bone marrow specimen: a case report and review of the literature.Journal of hematopathology · 2025Review
- Single-cell transcriptomic profiling of immune landscape in triple-negative breast cancer during neoadjuvant chemotherapy.NPJ systems biology and applications · 2025Article
- Review
- IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain.Clinical immunology (Orlando, Fla.) · 2025Article
- A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.Journal of clinical immunology · 2025Article
- Integrative systems biology framework discovers common gene regulatory signatures in mechanistically distinct inflammatory skin diseases.NPJ systems biology and applications · 2025Article
- Tregopathy in focus.Frontiers in immunology · 2025Article
- IKAROS: from chromatin organization to transcriptional elongation control.Cell death and differentiation · 2025Review
- Helios-Illuminating the way for lymphocyte self-control.Immunology · 2025Review
- A comprehensive two-hybrid analysis to explore themSystems · 2024Article
- Common variable immunodeficiency: autoimmune cytopenias and advances in molecular diagnosis.Hematology. American Society of Hematology. Education Program · 2024Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
IKAROS/IKZF1 plays a pivotal role in lymphocyte differentiation and development. Germline mutations in IKZF1, which have been shown to be associated with primary immunodeficiency, can be classified through four different mechanisms of action depending on the protein expression and its functional defects: haploinsufficiency, dimerization defective, dominant negative, and gain of function. These different mechanisms are associated with variable degrees of susceptibility to infectious diseases, autoimmune disorders, allergic diseases, and malignancies. To date, more than 30 heterozygous IKZF1 germline variants have been reported in patients with primary immunodeficiency. Here we review recent discoveries and clinical/immunological characterization of IKAROS-associated diseases that are linked to different mechanisms of action in IKAROS function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.