title: Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence.
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore; School of Biological Sciences, Nanyang Technological University, Singapore.
authors.forename: Daniela
authors.initials: D
authors.lastname: Cerny
authors.affiliation: Oxford University Clinical Research Unit, Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam.
authors.forename: Duyen Huynh
authors.initials: DH
authors.lastname: Thi Le
authors.affiliation: Oxford University Clinical Research Unit, Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam.
authors.forename: Trung Dinh
authors.initials: TD
authors.lastname: The
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Roland
authors.initials: R
authors.lastname: Zuest
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Srinivasan
authors.initials: S
authors.lastname: Kg
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Sumathy
authors.initials: S
authors.lastname: Velumani
authors.affiliation: Genome Institute of Singapore, A*STAR, Singapore.
authors.forename: Chiea Chuen
authors.initials: CC
authors.lastname: Khor
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore; Experimental Immunology, Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
authors.forename: Lucia
authors.initials: L
authors.lastname: Mori
authors.affiliation: Oxford University Clinical Research Unit, Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam; Nuffield Department of Clinical Medicine, Oxford University, Oxford, United Kingdom; Department of Microbiology and Immunology, University of Melbourne, the Peter Doherty Institute of Infection and Immunity, Carlton, Victoria, Australia.
authors.forename: Cameron P
authors.initials: CP
authors.lastname: Simmons
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Michael
authors.initials: M
authors.lastname: Poidinger
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Francesca
authors.initials: F
authors.lastname: Zolezzi
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore.
authors.forename: Florent
authors.initials: F
authors.lastname: Ginhoux
authors.affiliation: Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom.
authors.forename: Muzlifah
authors.initials: M
authors.lastname: Haniffa
authors.affiliation: Oxford University Clinical Research Unit, Hospital for Tropical Diseases, Ho Chi Minh City, Vietnam; Nuffield Department of Clinical Medicine, Oxford University, Oxford, United Kingdom. Electronic address: bwills@oucru.org.
authors.forename: Bridget
authors.initials: B
authors.lastname: Wills
authors.affiliation: Singapore Immunology Network, A*STAR, Singapore; School of Biological Sciences, Nanyang Technological University, Singapore. Electronic address: katja_fink@immunol.a-star.edu.sg.
authors.forename: Katja
authors.initials: K
authors.lastname: Fink
mesh_terms: D000328:Adult; D000938:Antigen-Presenting Cells / Q000276:immunology / Q000473:pathology; D018949:Antigens, CD1 / Q000235:genetics*; D001706:Biopsy; D002460:Cell Line; D045744:Cell Line, Tumor; D004817:Epidermis / Q000276:immunology / Q000473:pathology; D005260:Female; D057809:HEK293 Cells; D006684:HLA-DR Antigens / Q000235:genetics; D006801:Humans; D020014:K562 Cells; D007801:Langerhans Cells / Q000276:immunology* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D012867:Skin / Q000276:immunology / Q000473:pathology; D055815:Young Adult
chemical_list: D018949:Antigens, CD1; C419393:CD1a antigen; D006684:HLA-DR Antigens