ArticleFrontiers in immunology2021
Clinical and Immunological Features of Human BCL10 Deficiency.
Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 19 citations in OpenAlex.
- A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- An integrative approach for studying immunological variation in an aging population - The Milieu Intérieur follow-up study.Nature communications · 2026Article
- Primary Amoebic Meningoencephalitis caused by Complement C2 Deficiency.medRxiv : the preprint server for health sciences · 2026Article
- Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.Genes and immunity · 2026Article
- Heterogeneous immune cell composition in patients with combined immunodeficiency.Frontiers in immunology · 2026Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.Clinical and experimental immunology · 2025Article
- The CARD9 Gene in Koalas (Journal of fungi (Basel, Switzerland) · 2024Article
- Varying conjunctival immune response adaptations of house finch populations to a rapidly evolving bacterial pathogen.Frontiers in immunology · 2024Article
- BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.Journal of clinical immunology · 2023Article
- Inherited Human BCL10 Deficiencies.Journal of clinical immunology · 2023Review
- Inherited human ezrin deficiency impairs adaptive immunity.The Journal of allergy and clinical immunology · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- The role of the CBM complex in allergic inflammation and disease.The Journal of allergy and clinical immunology · 2022Review
- CARD11 signaling in regulatory T cell development and function.Advances in biological regulation · 2022Review
- CARD9 Mediates Pancreatic Islet Beta-Cell Dysfunction Under the Duress of Hyperglycemic Stress.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Insights into mucosal associated invariant T cell biology from human inborn errors of immunity.Frontiers in immunology · 2022Article
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Authors and funding
18 authors at 11 institutions in 4 countries.
Funding
Abstract
The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies in some of its components such as CARD9, CARD11, and MALT1 have been elucidated in detail. However, the scarcity of BCL10 deficient patients has prevented gaining detailed knowledge about this genetic disease. Only two patients with BCL10 deficiency have been reported to date. Here we provide an in-depth description of an additional patient with autosomal recessive complete BCL10 deficiency caused by a nonsense mutation that leads to a loss of expression (K63X). Using mass cytometry coupled with unsupervised clustering and machine learning computational methods, we obtained a thorough characterization of the consequences of BCL10 deficiency in different populations of leukocytes. We showed that in addition to the near absence of memory B and T cells previously reported, this patient displays a reduction in NK, γδT, Tregs, and T
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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.