title: Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, Zip Code 90.035-903, Brazil.
authors.forename: Fabiano de Oliveira
authors.initials: Fde O
authors.lastname: Poswar
authors.affiliation: Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Raymundo Mesko Tomkowski
authors.initials: RM
authors.lastname: da Fonseca
authors.affiliation: Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Leonardo Cordenonzi Pedroso
authors.initials: LC
authors.lastname: de Albuquerque
authors.affiliation: National Institutes of Health, National Human Genome Research Institute, Bethesda, USA.
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhou
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, Zip Code 90.035-903, Brazil.|Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.|Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Laura Bannach
authors.initials: LB
authors.lastname: Jardim
authors.affiliation: Neurology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.|Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Thais Lampert
authors.initials: TL
authors.lastname: Monte
authors.affiliation: National Institutes of Health, National Human Genome Research Institute, Bethesda, USA.
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, Zip Code 90.035-903, Brazil. jsaute@hcpa.edu.br.|Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. jsaute@hcpa.edu.br.
authors.forename: Jonas Alex Morales
authors.initials: JA
authors.lastname: Saute
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000235:genetics; D056647:Systemic Vasculitis / Q000235:genetics*
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase