ArticleThe Journal of experimental medicine2022
Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
Article in The Journal of experimental medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- Purkinje cell intrinsic activity shapes cerebellar development and function.Nature communications · 2026Article
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Changes in peripheral immune cell phenotypes and their roles in autism: insights from clinical and animal model studies.Molecular psychiatry · 2026Review
- Review
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.Nature communications · 2024Article
- Rack1 regulates B-cell development and function by binding to and stabilizing the transcription factor Pax5.Cellular & molecular immunology · 2024Article
- Concepts in B cell acute lymphoblastic leukemia pathogenesis.Journal of leukocyte biology · 2024Review
- Essential role of the Pax5 C-terminal domain in controlling B cell commitment and development.The Journal of experimental medicine · 2023Article
- Cognitive-Affective Functions of the Cerebellum.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus.Genes and immunity · 2023Article
- Enhancers of the PAIR4 regulatory module promote distal VThe EMBO journal · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Altered motor learning and coordination in mouse models of autism spectrum disorder.Frontiers in cellular neuroscience · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
27 authors at 8 institutions in 2 countries.
Funding
Abstract
The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed behavioral deficits in all ASD domains. The patient and the mouse model showed aberrant cerebellar foliation and severely impaired sensorimotor learning. PAX5 deficiency also caused profound hypoplasia of the substantia nigra and ventral tegmental area due to loss of GABAergic neurons, thus affecting two midbrain hubs, controlling motor function and reward processing, respectively. Heterozygous Pax5 mutant mice exhibited similar anatomic and behavioral abnormalities. Lineage tracing identified Pax5 as a crucial regulator of cerebellar morphogenesis and midbrain GABAergic neurogenesis. These findings reveal new roles of Pax5 in brain development and unravel the underlying mechanism of a novel immunological and neurodevelopmental syndrome.
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Registered trials
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