Article
Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients.
Blood - 10 Nov 2011
Ouederni Monia, Vincent Quentin B, Frange Pierre, Touzot Fabien, Scerra Sami, Bejaoui Mohamed, Bousfiha Aziz, Levy Yves, Lisowska-Grospierre Barbara, Canioni Danielle, Bruneau Julie, Debré Marianne, Blanche Stéphane, Abel Laurent, Casanova Jean-Laurent, Fischer Alain, Picard Capucine
Abstract excerpt
Inherited deficiency of major histocompatibility complex (MHC) class II molecules impairs antigen presentation to CD4(+) T cells and results in combined immunodeficiency (CID). Autosomal-recessive mutations in the RFXANK gene account for two-thirds of all cases of MHC class II deficiency. We describe here the genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa...
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