Article
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
Proceedings of the National Academy of Sciences of the United States of America - 28 Mar 2006
Wani Manzoor A, Haynes Lynn D, Kim Jonghan, Bronson C L, Chaudhury Chaity, Mohanty Sudhasri, Waldmann Thomas A, Robinson John M, Anderson Clark L
Abstract excerpt
Two siblings, products of a consanguineous marriage, were markedly deficient in both albumin and IgG because of rapid degradation of these proteins, suggesting a lack of the neonatal Fc receptor, FcRn. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta(2)-microglobulin (beta(2)m) that binds two ligands, IgG and albumin, and extends the catabolic half-lives of both. Eight...
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