ArticleJournal of clinical immunology2020
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 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
- Pathological IgE Production in Inborn Errors of Immunity and Beyond.Immunological reviews · 2025Review
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.Journal of clinical immunology · 2023Article
- Inherited Human BCL10 Deficiencies.Journal of clinical immunology · 2023Review
- 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
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Inborn Errors of the Immune System Associated With Atopy.Frontiers in immunology · 2022Review
- Clinical and Immunological Features of Human BCL10 Deficiency.Frontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 4 countries.
Funding
Abstract
In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele was reported to have complete inherited human BCL10 deficiency. In the present study, we report a new BCL10 mutation in another child with CID who was homozygous for a BCL10 variant (R88X), previously reported as a rare allele in heterozygosis (minor allele frequency, 0.000003986). The mutant allele was a loss-of-expression and loss-of-function allele. As with the previously reported patient, this patient had complete BCL10 deficiency. The clinical phenotype shared features, such as respiratory infections, but differed from that of the previous patient that he did not develop significant gastroenteritis episodes or chronic colitis. Cellular and immunological phenotypes were similar to those of the previous patient. TLR4, TLR2/6, and Dectin-1 responses were found to depend on BCL10 in fibroblasts, and final maturation of T cell and B cell maturation into memory cells was affected. Autosomal-recessive BCL10 deficiency should therefore be considered in children with CID.
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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.