ArticleHuman genetics2003
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 22 citations in OpenAlex.
- Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.Nature medicine · 2014Article
- B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele.Genes and immunity · 2010Article
- Expression of Fc gamma and complement receptors in monocytes of X-linked agammaglobulinaemia and common variable immunodeficiency patients.Clinical and experimental immunology · 2007Article
- Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.Human genetics · 2006Article
- The genetics of hypogammaglobulinemia.Current allergy and asthma reports · 2004Review
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Common variable immunodeficiency (CVID, OMIM 240500) and selective immunoglobulin A deficiency (IgAD) are the most frequent primary immunodeficiencies in humans. Of the cases with CVID/IgAD, 20%-25% are familial, but the only previous claims of linkage or association are to the HLA region on chromosome 6p. We report the results of a genome-wide scan in three multiplex families with CVID, IgAD, and dysgammaglobulinemia, where affection is inherited in an autosomal dominant pattern. Two of the families are consistent with linkage to the telomeric region of chromosome 5p, whereas the third is consistent with linkage to the HLA region. Using a locus heterogeneity model and a conservative penetrance model, we obtained a LOD score of 3.35 for the 5p region. We sequenced the exons of one promising candidate gene within this region (PDCD6, also known as ALG-2) but found no causative mutation.
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Registered trials
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