title: A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Petra
authors.initials: P
authors.lastname: Netter
authors.affiliation: National Jewish Health, Denver, Colo.
authors.forename: Sanny K
authors.initials: SK
authors.lastname: Chan
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Pinaki P
authors.initials: PP
authors.lastname: Banerjee
authors.affiliation: Children's Hospital of Philadelphia, Philadelphia, Pa.
authors.forename: Linda
authors.initials: L
authors.lastname: Monaco-Shawver
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Lenora M
authors.initials: LM
authors.lastname: Noroski
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Imelda C
authors.initials: IC
authors.lastname: Hanson
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Lisa R
authors.initials: LR
authors.lastname: Forbes
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Emily M
authors.initials: EM
authors.lastname: Mace
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex.
authors.forename: Javier
authors.initials: J
authors.lastname: Chinen
authors.affiliation: Pediatrics and Immunology, University College London, London, United Kingdom.
authors.forename: H Bobby
authors.initials: HB
authors.lastname: Gaspar
authors.affiliation: Children's Hospital of Philadelphia, Philadelphia, Pa.
authors.forename: Patrick
authors.initials: P
authors.lastname: Sleiman
authors.affiliation: Children's Hospital of Philadelphia, Philadelphia, Pa.
authors.forename: Hakon
authors.initials: H
authors.lastname: Hakonarson
authors.affiliation: Dr. von Hauner Children's Hospital, Department of Pediatrics, Ludwig-Maximilians-Universität Munich, Munich, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Klein
authors.affiliation: Weill-Cornell Medical College, New York, NY, and Hamad General Hospital, Doha, Qatar.
authors.forename: Mohammad S
authors.initials: MS
authors.lastname: Ehlayel
authors.affiliation: Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address: orange@bcm.edu.
authors.forename: Jordan S
authors.initials: JS
authors.lastname: Orange
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism*; D000417:Albinism / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D019943:Amino Acid Substitution; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D007694:Killer Cells, Natural / Q000276:immunology / Q000378:metabolism; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D020125:Mutation, Missense; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D000081207:Primary Immunodeficiency Diseases; D011485:Protein Binding / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C492410:MLPH protein, human; D008565:Membrane Proteins; C507969:UNC13D protein, human; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human