Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases

• Published in: Arthritis & rheumatology (Hoboken, N.J.) Vol. 68; no. 9; pp. 2314 - 2322
• Main Authors: Nanthapisal, Sira, Murphy, Claire, Omoyinmi, Ebun, Hong, Ying, Standing, Ariane, Berg, Stefan, Ekelund, Maria, Jolles, Stephen, Harper, Lorraine, Youngstein, Taryn, Gilmour, Kimberly, Klein, Nigel J., Eleftheriou, Despina, Brogan, Paul A.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.09.2016
• Subjects: ada2; Adenosine Deaminase - deficiency; Adenosine Deaminase - genetics; Adolescent; Adult; Child; Child, Preschool; Clinical Medicine; Enzymes; Female; Genotype; Genotype & phenotype; Humans; Intercellular Signaling Peptides and Proteins - deficiency; Intercellular Signaling Peptides and Proteins - genetics; Klinisk medicin; Male; Metabolism, Inborn Errors - diagnosis; Metabolism, Inborn Errors - drug therapy; Metabolism, Inborn Errors - genetics; Mutation; Pedigree; Phenotype; Rheumatology; vasculopathy; Young Adult

Objective To describe the clinical features, genotype, and treatment in a series of subjects with confirmed adenosine deaminase 2 (ADA2) deficiency. Methods All symptomatic subjects were referred for genetic testing for suspected ADA2 deficiency; relatives of index cases were also screened. Demograp...