Ontology highlight
ABSTRACT:
SUBMITTER: Schaffer AA
PROVIDER: S-EPMC1385708 | biostudies-literature | 2006 Feb
REPOSITORIES: biostudies-literature
Schäffer Alejandro A AA Pfannstiel Jessica J Webster A David B AD Plebani Alessandro A Hammarström Lennart L Grimbacher Bodo B
Human genetics 20051122 6
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 chromos ...[more]