Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency - Alkhairy, Omar K.; Perez-Becker, Ruy; Driessen, Gertjan J.; Abolhassani, Hassan; van Montfrans, Joris; Borte, Stephan; Choo, Sharon; Wang, Ning; Tesselaar, Kiki; Fang, Mingyan; Bienemann, Kirsten; Boztug, Kaan; et al. (Journal of allergy and clinical immunology, 2015)
Keywords: Adolescent; Allergy and Immunology; Antigens; CD27 deficiency; Child, Preschool; Cytotoxicity; Deoxyribonucleic acid; DNA; EBV-induced lymphoproliferation; Epstein-Barr virus; Epstein-Barr Virus Infections - diagnosis; Epstein-Barr Virus Infections - genetics; Epstein-Barr Virus Infections - immunology; Epstein-Barr Virus Infections - pathology; Exome; Families & family life; Female; Flow Cytometry; Genomes; hemophagocytic lymphohistiocytosis; Heterozygote; Hodgkin Disease - diagnosis; Hodgkin Disease - genetics; Hodgkin Disease - immunology; Hodgkin Disease - pathology; Hodgkin lymphoma; Homozygote; Human subjects; Humans; hypogammaglobulinemia; Immunophenotyping; Infant; Kinases; Lymphocytes; Lymphohistiocytosis, Hemophagocytic - diagnosis; Lymphohistiocytosis, Hemophagocytic - genetics; Lymphohistiocytosis, Hemophagocytic - immunology; Lymphohistiocytosis, Hemophagocytic - pathology; Lymphoproliferative Disorders - diagnosis; Lymphoproliferative Disorders - genetics; Lymphoproliferative Disorders - immunology; Lymphoproliferative Disorders - pathology; Male; Mutation; Proteins; Quality; T cell receptors; Tumor Necrosis Factor Receptor Superfamily, Member 7 - deficiency; Tumor Necrosis Factor Receptor Superfamily, Member 7 - genetics; Tumor Necrosis Factor Receptor Superfamily, Member 7 - immunology; Uveitis - diagnosis; Uveitis - genetics; Uveitis - immunology; Uveitis - pathology; Young Adult; LPD; IM; TBS; WES; EBV-induced lymphoproliferation; HLH; CD27 deficiency; hemophagocytic lymphohistiocytosis; IVIG; hypogammaglobulinemia; WB; CVID; SNP; HLH-2004 protocol; ADCC; HSCT; NK; Hodgkin lymphoma; Common variable immunodeficiency; Western blotting; Tris-buffered saline; Dexamethasone, etoposide, and cyclosporine A; Hematopoietic stem cell transplantation; Antibody-dependent cell-mediated cytotoxicity; Lymphoproliferative disease; Whole-exome sequencing; Intravenous immunoglobulin; Infectious mononucleosis; Natural killer; Single nucleotide polymorphism