NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation

Journal of Clinical Immunology

Volumn 36, Issue 6, 2016, Pages 533-540

  Boztug, Heidrun ^a   Hirschmugl, Tatjana ^b   Holter, Wolfgang ^a   Lakatos, Karoly ^a   Kager, Leo ^a   Trapin, Doris ^c   Pickl, Winfried ^c   Förster Waldl, Elisabeth ^d   Boztug, Kaan ^a,b,d,e  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

^e LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

Author keywords

Combined immunodeficiency; EBV lymphoproliferative disease; haploinsufficiency; NF B1

Indexed keywords

ANTIBIOTIC AGENT; C REACTIVE PROTEIN; CD19 ANTIGEN; CD27 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; CORTICOSTEROID; CORTISONE; IMMUNOGLOBULIN; IMMUNOGLOBULIN D; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; NF KAPPA B1; PROTEIN P105; RITUXIMAB; UNCLASSIFIED DRUG; AUTOANTIBODY; BIOLOGICAL MARKER;

ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANTIBIOTIC THERAPY; ARTICLE; B LYMPHOCYTE; BACTERIAL INFECTION; BONE MARROW BIOPSY; CASE REPORT; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CORTICOSTEROID THERAPY; DYSPHAGIA; EPSTEIN BARR VIRUS; EPSTEIN BARR VIRUS INFECTION; ESOPHAGITIS; EXOME; FEMALE; FEVER; FRAMESHIFT MUTATION; GENE SEQUENCE; GENERALIZED LYMPHADENOPATHY; HAPLOINSUFFICIENCY; HEPATOSPLENOMEGALY; HLA TYPING; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; LEUKOCYTE COUNT; LEUKOPENIA; LYMPHADENOPATHY; LYMPHOPROLIFERATIVE DISEASE; MEMORY CELL; NEUTROPENIA; NEUTROPHIL COUNT; NEXT GENERATION SEQUENCING; PHARYNGITIS; PRIORITY JOURNAL; RETROPHARYNGEAL ABSCESS; SINUSITIS; SPLENOMEGALY; STOP CODON; THROMBOCYTE COUNT; THROMBOCYTOPENIA; URINARY TRACT INFECTION; VIRUS REACTIVATION; YOUNG ADULT; ADOLESCENT; BIOPSY; BLOOD; COMPLICATION; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNE DEFICIENCY; IMMUNOLOGY; IMMUNOPHENOTYPING; LYMPH NODE; METABOLISM; MUTATION; PATHOLOGY; T LYMPHOCYTE SUBPOPULATION; VIROLOGY;

ADOLESCENT; AUTOANTIBODIES; BIOMARKERS; BIOPSY; EPSTEIN-BARR VIRUS INFECTIONS; EXOME; FEMALE; HAPLOINSUFFICIENCY; HERPESVIRUS 4, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; LYMPH NODES; LYMPHOPROLIFERATIVE DISORDERS; MUTATION; NF-KAPPA B; T-LYMPHOCYTE SUBSETS;

EID: 84976332661     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0306-1     Document Type: Article

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