Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q

European Journal of Human Genetics : EJHG
Anemone FinckBodo Grimbacher

Abstract

The phenotype of common variable immunodeficiency (CVID) is characterized by recurrent infections owing to hypogammaglobulinemia, with deficiency in immunoglobulin (Ig)G and at least one of IgA or IgM. Family studies have shown a genetic association between CVID and selective IgA deficiency (IgAD), the latter being a milder disorder compatible with normal health. Approximately 20-25% of CVID cases are familial, if one includes families with at least one case of CVID and one of IgAD. Nijenhuis et al described a five-generation family with six cases of CVID, five cases of IgAD, and three cases of dysgammaglobulinemia. We conducted a genome-wide scan on this family seeking genetic linkage. One interval on chromosome 4q gives a peak multipoint LOD score of 2.70 using a strict model that treats only the CVID patients and one obligate carrier with dysgammaglobulinemia as affected. Extending the definition of likely affected to include IgAD boosts the peak multipoint LOD score to 3.38. The linkage interval spans at least from D4S2361 to D4S1572. We extended our study to a collection of 32 families with at least one CVID case and a second case of either CVID or IgAD. We used the same dominant penetrance model and genotyped and analyzed...Continue Reading

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Citations

Oct 30, 2009·The New England Journal of Medicine·Erik-Oliver GlockerBodo Grimbacher
Nov 21, 2007·Current Opinion in Pediatrics·Erik GlockerBodo Grimbacher
Nov 29, 2007·The American Journal of Surgical Pathology·Jason A DanielsElizabeth A Montgomery
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May 18, 2021·Genes & Diseases·Mohammad Reza ZinatizadehSeyed Rouhollah Miri
May 23, 2012·American Journal of Human Genetics·Gabriela Lopez-HerreraBodo Grimbacher

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