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Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
Open accessAbstract
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. These mutations demonstrated incomplete penetrance and led to haploinsufficiency. Herein, we report 7 unrelated patients with a novel early-onset combined immunodeficiency associated with de novo germline IKZF1 heterozygous mutations affecting amino acid N159 located in the DNA-binding domain of IKZF1. Different bacterial and viral infections were diagnosed, but Pneumocystis jirovecii pneumonia was reported in all patients. One patient developed a T cell ALL. This immunodeficiency was characterized by innate and adaptive immune defects, including low numbers of B cells, neutrophils, eosinophils, and myeloid dendritic cells, as well as T cell and monocyte dysfunctions. Notably, most T cells exhibited a naive phenotype and were unable to evolve into effector memory cells. Functional studies indicated these mutations act as dominant negative. This defect expands the clinical spectrum of human IKZF1-associated diseases from somatic to germline, from haploinsufficient to dominant negative.
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Metadata
- Authors
- Boutboul, D., Kuehn, H. S., Van de Wyngaert, Z., Niemela, J. E., Callebaut, I., Stoddard, J., Lenoir, C., Barlogis, V., Farnarier, C., Vely, F., Yoshida, N., Kojima, S., Kanegane, H., Hoshino, A., Hauck, F., Lhermitte, L., Asnafi, V., Roehrs, P., Chen, S., Verbsky, J. W., Calvo, K. R., Husami, A., Zhang, K., Roberts, J., Amrol, D., Sleaseman, J., Hsu, A. P., Holland, S. M., Marsh, R., Fischer, A., Fleisher, T. A., Picard, C., Latour, S., & Rosenzweig, S. D.
- Affiliations
- Inserm (FR)
- National Institutes of Health (US)
- Centre National de la Recherche Scientifique (FR)
- Hôpital de la Timone (FR)
- Assistance Publique Hôpitaux de Marseille (FR)
- Japanese Red Cross Nagoya Daiichi Hospital (JP)
- Nagoya University (JP)
- Tokyo Medical and Dental University (JP)
- LMU Klinikum (DE)
- Hôpital Necker-Enfants Malades (FR)
- Carolinas Healthcare System (US)
- Medical College of Wisconsin (US)
- Cincinnati Children's Hospital Medical Center (US)
- Duke Medical Center (US)
- University of South Carolina (US)
- Corresponding author
- Latour, Sylvain
- Rosenzweig, Sergio D.
- ORCID
- Boutboul, David
- Kuehn, Hye Sun
- Niemela, Julie E.
- Callebaut, Isabelle
- Stoddard, Jennifer
- Lenoir, Christelle
- Barlogis, Vincent
- Farnarier, Catherine
- Vely, Frédéric
- Yoshida, Nao
- Kojima, Seiji
- Kanegane, Hirokazu
- Hoshino, Akihiro
- Hauck, Fabian
- Lhermitte, Ludovic
- Asnafi, Vahid
- Chen, Shaoying
- Verbsky, James W.
- Calvo, Katherine R.
- Husami, Ammar
- Zhang, Kejian
- Roberts, Joseph
- Hsu, Amy P.
- Holland, Steven M.
- Marsh, Rebecca
- Fischer, Alain
- Fleisher, Thomas A.
- Picard, Capucine
- Latour, Sylvain
- Rosenzweig, Sergio D.
- Venue
- Journal of Clinical Investigation
- Published
- 2018-06-11
- Volume
- 128
- Issue
- 7
- Pages
- 3071-3087
- ISSN
- 0021-9738 (ISSN-L)
- 1558-8238
- PMC
- PMC6026000
- OpenAlex
- W2805128721
- Cited by
- 169
- References
- 45
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 21 · 2023: 23 · 2022: 19 · 2021: 30 · 2020: 30 · 2019: 19 · 2018: 3
- FWCI
- 8.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Agence Nationale de la Recherche, France (ANR-14-CE14-0028-01, ANR-10-IAHU-01)
- Ligue Contre le Cancer, France (Equipe Labellisée)
- Rare Diseases Fondation, France (Exome sequencing)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Keywords
- IKZF1, Ikaros, dominant negative mutation, germline mutations, combined immunodeficiency, T cell deficiency, B-cell immunodeficiency, Pneumocystis carinii pneumonia, T-cell acute lymphoblastic leukemia, DNA-binding domain, haploinsufficiency, naive T cells, dendritic cells, monocyte dysfunction, neutrophil deficiency, B-cell acute lymphoblastic leukemia
- MeSH terms
- Protein Domains, Loss of Function Mutation, Adolescent, Adult, Amino Acid Sequence, B-Lymphocytes, Child, Child, Preschool, Female, Genes, Dominant, Heterozygote, Humans, Immunologic Deficiency Syndromes, Infant, Male, Pedigree, Phenotype, T-Lymphocytes, Sequence Homology, Amino Acid, Germ-Line Mutation, Amino Acid Substitution, Myeloid Cells, Ikaros Transcription Factor, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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