title: Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency.
authors.affiliation: Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands. Electronic address: t.w.kuijpers@amc.nl.
authors.forename: Taco W
authors.initials: TW
authors.lastname: Kuijpers
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Anton T J
authors.initials: ATJ
authors.lastname: Tool
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Ivo
authors.initials: I
authors.lastname: van der Bijl
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Martin
authors.initials: M
authors.lastname: de Boer
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Michel
authors.initials: M
authors.lastname: van Houdt
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Iris M
authors.initials: IM
authors.lastname: de Cuyper
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Dirk
authors.initials: D
authors.lastname: Roos
authors.affiliation: Department of Plasma Proteins, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Floris
authors.initials: F
authors.lastname: van Alphen
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Karin
authors.initials: K
authors.lastname: van Leeuwen
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Emma L
authors.initials: EL
authors.lastname: Cambridge
authors.affiliation: Division of Pathology, Centre for Comparative Pathology, Edinburgh Cancer Research Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Arends
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Gordon
authors.initials: G
authors.lastname: Dougan
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Simon
authors.initials: S
authors.lastname: Clare
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: Ramiro
authors.initials: R
authors.lastname: Ramirez-Solis
authors.affiliation: Department of Pathology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Steven T
authors.initials: ST
authors.lastname: Pals
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
authors.forename: David J
authors.initials: DJ
authors.lastname: Adams
authors.affiliation: Department of Plasma Proteins, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Alexander B
authors.initials: AB
authors.lastname: Meijer
authors.affiliation: Department of Blood Cell Research, Sanquin Research, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: Timo K
authors.initials: TK
authors.lastname: van den Berg
mesh_terms: D051376:Actin-Related Protein 2-3 Complex / Q000172:deficiency*; D000818:Animals; D015415:Biomarkers; D001706:Biopsy; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D004198:Disease Susceptibility; D006801:Humans; D006967:Hypersensitivity / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D007249:Inflammation / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000209:etiology* / Q000378:metabolism; D012720:Severity of Illness Index; D012867:Skin / Q000276:immunology / Q000473:pathology
chemical_list: C460821:ARPC1B protein, human; D051376:Actin-Related Protein 2-3 Complex; D015415:Biomarkers