The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency - Gámez-Díaz, Laura; August, Dietrich; Stepensky, Polina; Revel-Vilk, Shoshana; Seidel, Markus G.; Noriko, Mitsuiki; Morio, Tomohiro; Worth, Austen J.J.; Blessing, Jacob; Van de Veerdonk, Frank; Feuchtinger, Tobias; Kanariou, Maria; et al. (Journal of allergy and clinical immunology, 2016)
Keywords: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Adolescent; Allergy and Immunology; Apoptosis; autoimmunity; B-Lymphocytes - immunology; Child; Child, Preschool; common variable Immunodeficiency; enteropathy; Female; Genotype & phenotype; Hematopoietic Stem Cell Transplantation; Humans; hypogammaglobulinemia; Immunologic Deficiency Syndromes - drug therapy; Immunologic Deficiency Syndromes - immunology; Immunologic Deficiency Syndromes - metabolism; Immunologic Deficiency Syndromes - therapy; Immunosuppressive Agents - therapeutic use; Infant; Infections; Inflammatory bowel disease; Kinases; Life Sciences; LPS-responsive beige-like anchor protein; lymphoproliferation; Male; Mutation; Patients; Pharmaceutical sciences; Phenotype; primary immunodeficiency; Protein expression; Proteins; Rodents; Siblings; T-Lymphocytes - immunology; ALPS-Ph; ITP; LRBA; LPS-responsive beige-like anchor protein; Treg; IBD; hypogammaglobulinemia; ALPS; CVID; autoimmunity; common variable Immunodeficiency; enteropathy; primary immunodeficiency; IPEX; lymphoproliferation; HSCT; Autoimmune lymphoproliferative syndrome of undetermined genetic cause; Idiopathic thrombocytopenic purpura; Inflammatory bowel disease; Autoimmune lymphoproliferative syndrome; Regulatory T; Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; Hematopoietic stem cell transplantation