ArticlePediatric blood & cancer2012
Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene.
Article in Pediatric blood & cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 90 citations in OpenAlex.
- Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.Blood advances · 2026Article
- IKZF-associated inborn errors of immunity.Journal of human immunity · 2025Review
- Critical roles of IKAROS and HDAC1 in regulation of heterochromatin and tumor suppression in T-cell acute lymphoblastic leukemia.Leukemia · 2025Article
- 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
- A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.Journal of clinical immunology · 2025Article
- Clinical and experimental treatment of primary humoral immunodeficiencies.Clinical and experimental immunology · 2024Review
- IKAROS-how many feathers have you lost: mild and severe phenotypes inFrontiers in pediatrics · 2024Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.Clinical and experimental immunology · 2023Review
- IKAROS in Acute Leukemia: A Positive Influencer or a Mean Hater?International journal of molecular sciences · 2023Review
- Dendritic cells in inborn errors of immunity.Frontiers in immunology · 2023Review
- Common Variable Immunodeficiency Associated with a De NovoJournal of clinical medicine · 2022Article
- AIOLOS Variants Causing Immunodeficiency in Human and Mice.Frontiers in immunology · 2022Review
- Pathogenic germlineCold Spring Harbor molecular case studies · 2021Article
- GermlineExpert review of clinical immunology · 2021Review
- Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.Blood · 2021Article
- IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.Journal of clinical immunology · 2021Review
- Ikaros Proteins in Tumor: Current Perspectives and New Developments.Frontiers in molecular biosciences · 2021Review
- IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.Immunology and allergy clinics of North America · 2020Review
- B Cell Disorders in Children-Part I.Current allergy and asthma reports · 2020Review
Corrections and comments
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Authors and funding
7 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundCongenital pancytopenia is a rare and often lethal condition. Current knowledge of lymphoid and hematopoietic development in mice, as well as understanding regulators of human hematopoiesis, have led to the recent discovery of genetic causes of bone marrow failure disorders. However, in the absence of mutations of specific genes or a distinct clinical phenotype, many cases of aplastic anemia are labeled as idiopathic, while congenital immune deficiencies are described as combined immune deficiency. PROCEDURE: We describe the case of a 33-week gestation age male with severe polyhydramnios, hydrops, and ascites who was noted to be pancytopenic at birth. Bone marrow examination revealed a hypocellular marrow with absent myelopoiesis. An immune workup demonstrated profound B lymphopenia, near absent NK cells, and normal T cell number. Due to the similarity of the patient's phenotype with the IKAROS knockout mouse, studies were performed on bone marrow and peripheral blood to assess a potential pathogenic role of Ikaros.
resultsDNA studies revealed a point mutation in one allele of the IKAROS gene, resulting in an amino acid substitution in the DNA-binding zinc finger domain. Functional studies demonstrated that the observed mutation decreased Ikaros DNA-binding affinity, and immunofluorescence microscopy revealed aberrant Ikaros pericentromeric localization.
conclusionsOur report describes a novel case of congenital pancytopenia associated with mutation of the IKAROS gene. Furthermore, these data suggest a critical role of IKAROS in human hematopoiesis and immune development.
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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.