ArticleClinical and diagnostic laboratory immunology2001
Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome.
Article in Clinical and diagnostic laboratory immunology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- Immunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.MedComm · 2024Review
- An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.Molecular syndromology · 2022Article
- Epigenetic Modulation of Class-Switch DNA Recombination to IgA by miR-146a Through Downregulation of Smad2, Smad3 and Smad4.Frontiers in immunology · 2021Article
- A rare cause of steroid-resistant nephrotic syndrome in a child: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- Article
- Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.Lipids in health and disease · 2016Article
- Establishment of a transgenic mouse model with liver-specific expression of secretory immunoglobulin D.Science China. Life sciences · 2012Article
- Genetic causes of high and low serum HDL-cholesterol.Journal of lipid research · 2010Review
- Abnormal IgD and IgA1 O-glycosylation in hyperimmunoglobulinaemia D and periodic fever syndrome.Clinical and experimental medicine · 2009Article
- Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.Journal of inherited metabolic disease · 2007Article
- Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.Annals of the rheumatic diseases · 2006Article
- Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.Orphanet journal of rare diseases · 2006Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hyperimmunoglobulinemia D syndrome (HIDS) is an autosomal recessive disorder characterized by recurrent febrile attacks with abdominal, articular, and skin manifestations. Apart from elevated immunoglobulin D (IgD) levels (>100 IU/ml), there are high IgA levels in the majority of cases. Mutations in the gene encoding mevalonate kinase constitute the molecular defect in HIDS. The cause of elevated IgA concentrations in HIDS patients remains to be elucidated. We studied the hyper-IgA response in serum of a group of HIDS patients. Elevated IgA concentrations result from increased IgA1 concentrations. IgA and IgA1 concentrations correlated significantly with IgD concentrations, and levels of IgA polymers were significantly higher than the levels in healthy donors. These results indicate a continuous, presumably systemic, stimulation of IgA in HIDS patients.
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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.