title: Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.
abstract: Common variable immunodeficiency (CVID) is an antibody deficiency syndrome that often co-occurs in families with selective IgA deficiency (IgAD). Vorechovský et al. (Am J Hum Genet 64:1096-1109, 1999; J Immunol 164:4408-4416, 2000) ascertained and genotyped 101 multiplex IgAD families and used them to identify and fine map the IGAD1 locus on chromosome 6p. We analyzed the original genotype data in a subset of families with at least one case of CVID and present evidence of a CVID locus on chromosome 16q with autosomal dominant inheritance. The peak (model-based) LOD score for the best marker D16S518 is 2.83 at theta=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with alpha=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001).
authors.affiliation: Department of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg. 38A/Rm. 6S608; 8600 Rockville Pike, Bethesda, MD 20894, USA. schaffer@helix.nih.gov
authors.forename: Alejandro A
authors.initials: AA
authors.lastname: Schäffer
authors.forename: Jessica
authors.initials: J
authors.lastname: Pfannstiel
authors.forename: A David B
authors.initials: AD
authors.lastname: Webster
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
authors.forename: Lennart
authors.initials: L
authors.lastname: Hammarström
authors.forename: Bodo
authors.initials: B
authors.lastname: Grimbacher
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D017074:Common Variable Immunodeficiency / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D008126:Lod Score