Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

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Veröffentlicht in:	Haematologica (Roma) 2017-07, Vol.102 (7), p.e278-e281
Hauptverfasser:	Heurtier, Lucie, Lamrini, Hicham, Chentout, Loïc, Deau, Marie-Céline, Bouafia, Amine, Rosain, Jérémie, Plaza, Jean-Marc, Parisot, Mélanie, Dumont, Benoit, Turpin, Delphine, Merlin, Etienne, Moshous, Despina, Aladjidi, Nathalie, Neven, Bénédicte, Picard, Capucine, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Stephan, Jean-Louis, Kracker, Sven
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Amino Acid Substitution Biomarkers Child Class I Phosphatidylinositol 3-Kinases - blood Class I Phosphatidylinositol 3-Kinases - chemistry Class I Phosphatidylinositol 3-Kinases - genetics DNA Mutational Analysis Female Gain of Function Mutation Genetic Association Studies Genetics High-Throughput Nucleotide Sequencing Human genetics Humans Immunologic Deficiency Syndromes - blood Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - genetics Immunology Life Sciences Male Models, Molecular Mutation Online Only Phenotype Primary Immunodeficiency Diseases Protein Conformation Protein Interaction Domains and Motifs - genetics T-Lymphocyte Subsets - immunology T-Lymphocyte Subsets - metabolism
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