Article
Autosomal-dominant primary immunodeficiencies.
Current opinion in hematology - 1 Jan 2005
Lawrence Tatiana, Puel Anne, Reichenbach Janine, Ku Cheng-Lung, Chapgier Ariane, Renner Ellen, Minard-Colin Véronique, Ouachée Marie, Casanova Jean-Laurent
Abstract excerpt
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology: isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE syndrome. The large deletions on chromosome 22q11.2 associated with...
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