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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Braig DU,Schäffer AA,Glocker E,Salzer U,Warnatz K,Peter HH,Grimbacher Bdoi
10.1007/s00439-002-0890-4keywords:
subject
Has Abstractpub_date
2003-04-01 00:00:00pages
369-78issue
4eissn
0340-6717issn
1432-1203journal_volume
112pub_type
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