title: Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Cyrill
authors.initials: C
authors.lastname: Schipp
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Schafiq
authors.initials: S
authors.lastname: Nabhani
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Kirsten
authors.initials: K
authors.lastname: Bienemann
authors.affiliation: Department of Radiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Natalia
authors.initials: N
authors.lastname: Simanovsky
authors.affiliation: The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors.forename: Shlomit
authors.initials: S
authors.lastname: Kfir-Erenfeld
authors.affiliation: The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Assayag-Asherie
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Prasad T
authors.initials: PT
authors.lastname: Oommen
authors.affiliation: Pediatric Hematology Oncology and Bone Marrow Transplantation Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Shoshana
authors.initials: S
authors.lastname: Revel-Vilk
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Andrea
authors.initials: A
authors.lastname: Hönscheid
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Gombert
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany Department of Computer Science, Bonn-Rhine-Sieg University of Applied Sciences, Sankt Augustin, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Ginzel
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Daniel
authors.initials: D
authors.lastname: Schäfer
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Laws
authors.affiliation: The Lautenberg Research Center, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors.forename: Eitan
authors.initials: E
authors.lastname: Yefenof
authors.affiliation: Department of Clinical and Molecular Virology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Fleckenstein
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Borkhardt
authors.affiliation: Pediatric Hematology Oncology and Bone Marrow Transplantation Department, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Polina
authors.initials: P
authors.lastname: Stepensky
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany ute.fischer@med.uni-duesseldorf.de.
authors.forename: Ute
authors.initials: U
authors.lastname: Fischer
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D018836:Inflammation Mediators / Q000276:immunology; D000073658:Loss of Function Mutation / Q000235:genetics* / Q000276:immunology; D052002:NF-kappa B p50 Subunit / Q000235:genetics* / Q000276:immunology; D010375:Pedigree; D055815:Young Adult
chemical_list: D018836:Inflammation Mediators; D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human
keywords: Fas; NFKB; antibody deficiency; autoimmune lymphoproliferative syndrome; autoinflammatory disease; immunodeficiency