Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' m...

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Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 110(2004), 1 vom: 01. Jan., Seite 22-9
1. Verfasser: Quartier, Pierre (VerfasserIn)
Weitere Verfasser: Bustamante, Jacinta, Sanal, Ozden, Plebani, Alessandro, Debré, Marianne, Deville, Anne, Litzman, Jiri, Levy, Jacov, Fermand, Jean-Paul, Lane, Peter, Horneff, Gerd, Aksu, Guzide, Yalçin, Isik, Davies, Graham, Tezcan, Ilhan, Ersoy, Furgen, Catalan, Nadia, Imai, Kohsuhe, Fischer, Alain, Durandy, Anne
Format: Aufsatz
Sprache:English
Veröffentlicht: 2004
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Immunoglobulin M AICDA (Activation-Induced Cytidine Deaminase) EC 3.5.4.- Cytidine Deaminase EC 3.5.4.5