ArticleJournal of clinical immunology2015
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years.Case reports in immunology · 2022Article
- BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology.Frontiers in medicine · 2022Article
- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.Journal of clinical immunology · 2019Article
- [Structure and function of B-cell linker and its role in the development of B cell-related diseases].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2019Article
- Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis.Frontiers in immunology · 2018Article
- Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.Journal of clinical immunology · 2017Review
- Potential immunosuppressive effects of Escherichia coli O157:H7 experimental infection on the bovine host.BMC genomics · 2016Article
- Peripheral B Cell Deficiency and Predisposition to Viral Infections: The Paradigm of Immune Deficiencies.Frontiers in immunologyReview
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.
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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.