Article
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
The Journal of allergy and clinical immunology - 1 Jul 2016
Elkaim Elodie, Neven Benedicte, Bruneau Julie, Mitsui-Sekinaka Kanako, Stanislas Aurelie, Heurtier Lucie, Lucas Carrie L, Matthews Helen, Deau Marie-Céline, Sharapova Svetlana, Curtis James, Reichenbach Janine, Glastre Catherine, Parry David A, Arumugakani Gururaj, McDermott Elizabeth, Kilic Sara Sebnem, Yamashita Motoi, Moshous Despina, Lamrini Hicham, Otremba Burkhard, Gennery Andrew, Coulter Tanya, Quinti Isabella, Stephan Jean-Louis, Lougaris Vassilios, Brodszki Nicholas, Barlogis Vincent, Asano Takaki, Galicier Lionel, Boutboul David, Nonoyama Shigeaki, Cant Andrew, Imai Kohsuke, Picard Capucine, Nejentsev Sergey, Molina Thierry Jo, Lenardo Michael, Savic Sinisa, Cavazzana Marina, Fischer Alain, Durandy Anne, Kracker Sven
Abstract excerpt
BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85α, p55α, and p50α) of class IA phosphoinositide 3-kinases. OBJECTIVES: We sought to review the...
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