title: A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.
authors.affiliation: Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.
authors.forename: Anoop
authors.initials: A
authors.lastname: Mistry
authors.affiliation: Centre for Genomic & Experimental Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.
authors.forename: David
authors.initials: D
authors.lastname: Parry
authors.affiliation: Department of Histopathology, Hull Royal Infirmary, Hull, UK.
authors.forename: Bipin
authors.initials: B
authors.lastname: Matthews
authors.affiliation: Department of Dermatology, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Philip
authors.initials: P
authors.lastname: Laws
authors.affiliation: Department of Dermatology, Chapel Allerton Hospital, Leeds, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Goodfield
authors.affiliation: Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK. s.savic@leeds.ac.uk.|National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU) and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, UK. s.savic@leeds.ac.uk.
authors.forename: Sinisa
authors.initials: S
authors.lastname: Savic
mesh_terms: D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural; D015614:Histiocytosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D006801:Humans; D056747:Immunomodulation; D007167:Immunotherapy / Q000379:methods*; D009154:Mutation / Q000235:genetics*; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human