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OMIM_backup@xiajingbo:109700-1-B2M JSONTXT

In 2 sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600) originally reported byWaldmann (1969), Wani et al. (2006) identified a homozygous c.913G-C transversion in exon 1 of the B2Mgene, resulting in an ala11-to-pro (A11P) substitution at the midpoint of the signal sequence. Both sibs hadB2M serum levels that were less than 1.0% of normal as well as soluble HLA levels that were less than 0.2% of normal. Transfection studies showed that the mutant B2M gene resulted in reduced expression of theB2M, MHC class I, and FcRn protein.

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