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LIBRIS Formathandbok  (Information om MARC21)
00003639naa a2200457 4500
008211119s2016 | |||||||||||000 ||eng|
024a https://gup.ub.gu.se/publication/2434432 URI
024a https://doi.org/10.1002/art.396992 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Nanthapisal, S.4 aut
2451 0a Deficiency of Adenosine Deaminase Type 2 A Description of Phenotype and Genotype in Fifteen Cases
264 1c 2016
520 a 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. Demographic, clinical, and laboratory characteristics and treatments were recorded. Genetic analyses included whole-exome sequencing in 4 subjects and Sanger sequencing of CECR1 (the gene for cat eye syndrome chromosome region candidate 1) in all subjects. Assays for ADA2 enzyme activity and quantitative polymerase chain reaction analysis of CECR1 messenger RNA (mRNA) were also performed. Results. We identified 15 subjects with ADA2 deficiency, 5 of whom were asymptomatic (relatives of index cases; ages 5-42 years). Homozygous or compound heterozygous mutations in CECR1 were identified in all subjects. Phenotypic manifestations in the patients with symptomatic ADA2 deficiency included livedo racemosa (73.3%), neurologic involvement (53.3%), and immunodeficiency (46.7%). CECR1 mRNA expression in 8 subjects, including 5 who were presymptomatic, was significantly lower than in healthy controls (P=0.0016). Subjects with ADA2 deficiency (with or without symptoms) also had lower ADA2 enzyme activity compared to healthy pediatric controls (P<0.0001) and patients with sporadic (nonfamilial) childhood polyarteritis nodosa (PAN) without CECR1 mutation (P= 0.0108). Anti-tumor necrosis factor therapy was required in 9 of the 10 symptomatic subjects. Conclusion. The clinical manifestations of ADA2 deficiency ranged in severity from limited cutaneous involvement to severe multisystemic vasculitis; one-third of our cases (5 of 15) were currently asymptomatic, and required close monitoring. We recommend CECR1 screening for unaffected siblings of index cases, cases of familial vasculitis, and cases of PAN that is resistant to standard treatment.
653 a vasculopathy
653 a ada2
653 a Rheumatology
700a Murphy, C.4 aut
700a Omoyinmi, E.4 aut
700a Hong, Y.4 aut
700a Standing, A.4 aut
700a Berg, Stefan,d 1959u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xbeste
700a Ekelund, M.4 aut
700a Jolles, S.4 aut
700a Harper, L.4 aut
700a Youngstein, T.4 aut
700a Gilmour, K.4 aut
700a Klein, N. J.4 aut
700a Eleftheriou, D.4 aut
700a Brogan, P. A.4 aut
710a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
710a Göteborgs universitet
710a Gothenburg University
773t Arthritis & Rheumatologyg 68:9, s. 2314-2322q 68:9<2314-2322x 2326-5191
8564 8u https://gup.ub.gu.se/publication/243443
8564 8u https://doi.org/10.1002/art.39699

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