{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:42:14Z","timestamp":1789512134139,"version":"build-2803163510"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1007\/s10875-018-0496-9","type":"journal-article","created":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T17:14:24Z","timestamp":1525886064000},"page":"484-493","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome"],"prefix":"10.1007","volume":"38","author":[{"given":"Deniz","family":"Cagdas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u0131nar","family":"Gur Cetinkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bet\u00fcl","family":"Karaatmaca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saliha","family":"Esenboga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cagman","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Togay","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ersin","family":"G\u00fcm\u00fc\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Bar\u0131\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bar\u0131\u015f","family":"Ku\u015fkonmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuba Turul","family":"Ozgur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan","family":"Bali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Santisteban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diclehan","family":"Orhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysel","family":"Y\u00fcce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Cetinkaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaan","family":"Boztug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Hershfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozden","family":"Sanal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130lhan","family":"Tezcan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,9]]},"reference":[{"issue":"4","key":"496_CR1","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1086\/302054","volume":"63","author":"FX Arredondo-Vega","year":"1998","unstructured":"Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998;63(4):1049\u201359.","journal-title":"Am J Hum Genet"},{"key":"496_CR2","unstructured":"Hershfield M. Adenosine deaminase deficiency. 2006 Oct 3 [Updated 2014 Jun 19]. GeneReviews\u00d2 [Internet] Seattle (WA): University of Washington, Seattle. 2014."},{"issue":"7","key":"496_CR3","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1007\/s10875-017-0433-3","volume":"37","author":"KL Bradford","year":"2017","unstructured":"Bradford KL, Moretti FA, Carbonaro-Sarracino DA, Gaspar HB, Kohn DB. Adenosine deaminase (ADA)-deficient severe combined immune deficiency (SCID): molecular pathogenesis and clinical manifestations. J Clin Immunol. 2017;37(7):626\u201337.","journal-title":"J Clin Immunol"},{"issue":"1","key":"496_CR4","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1067\/mpd.2001.115023","volume":"139","author":"MH Rogers","year":"2001","unstructured":"Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001;139(1):44\u201350.","journal-title":"J Pediatr"},{"issue":"6","key":"496_CR5","doi-asserted-by":"publisher","first-page":"1456","DOI":"10.1172\/JCI30953","volume":"117","author":"M Cavazzana-Calvo","year":"2007","unstructured":"Cavazzana-Calvo M, Fischer A. Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Investig. 2007;117(6):1456\u201365.","journal-title":"J Clin Investig"},{"issue":"5","key":"496_CR6","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1056\/NEJMoa1401177","volume":"371","author":"S-Y Pai","year":"2014","unstructured":"Pai S-Y, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, et al. Transplantation outcomes for severe combined immunodeficiency, 2000\u20132009. N Engl J Med. 2014;371(5):434\u201346.","journal-title":"N Engl J Med"},{"issue":"3","key":"496_CR7","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1006\/clim.1999.4799","volume":"93","author":"ME Conley","year":"1999","unstructured":"Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clin Immunol. 1999;93(3):190\u20137.","journal-title":"Clin Immunol"},{"issue":"3","key":"496_CR8","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1182\/blood.V99.3.1005","volume":"99","author":"FX Arredondo-Vega","year":"2002","unstructured":"Arredondo-Vega FX, Santisteban I, Richard E, Bali P, Koleilat M, Loubser M, et al. Adenosine deaminase deficiency with mosaicism for a \u201csecond-site suppressor\u201d of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy. Blood. 2002;99(3):1005\u201313.","journal-title":"Blood"},{"key":"496_CR9","doi-asserted-by":"publisher","first-page":"5360","DOI":"10.1038\/ncomms6360","volume":"5","author":"KL Willmann","year":"2014","unstructured":"Willmann KL, Klaver S, Do\u011fu F, Santos-Valente E, Garncarz W, Bilic I, et al. Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. Nat Commun. 2014;5:5360.","journal-title":"Nat Commun"},{"issue":"5","key":"496_CR10","doi-asserted-by":"publisher","first-page":"2291","DOI":"10.1172\/JCI116833","volume":"92","author":"I Santisteban","year":"1993","unstructured":"Santisteban I, Arredondo-Vega FX, Kelly S, Mary A, Fischer A, Hummell DS, et al. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late\/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. J Clin Invest. 1993;92(5):2291\u2013302.","journal-title":"J Clin Invest"},{"issue":"3","key":"496_CR11","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1016\/j.ymthe.2017.12.022","volume":"26","author":"MP Cicalese","year":"2018","unstructured":"Cicalese MP, Ferrua F, Castagnaro L, Rolfe K, De Boever E, Reinhardt RR, et al. Gene therapy for adenosine deaminase deficiency: a comprehensive evaluation of short- and medium-term safety. Mol Ther. 2018;26(3):917\u201331.","journal-title":"Mol Ther"},{"key":"496_CR12","doi-asserted-by":"publisher","first-page":"314","DOI":"10.3389\/fimmu.2016.00314","volume":"7","author":"KV Whitmore","year":"2016","unstructured":"Whitmore KV, Gaspar HB. Adenosine deaminase deficiency\u2014more than just an immunodeficiency. Front Immunol. 2016;7:314.","journal-title":"Front Immunol"},{"issue":"4","key":"496_CR13","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1203\/PDR.0b013e31820efbcf","volume":"69","author":"SA Rivkees","year":"2011","unstructured":"Rivkees SA, Wendler CC. Adverse and protective influences of adenosine on the newborn and embryo: implications for preterm white matter injury and embryo protection. Pediatr Res. 2011;69(4):271\u20138.","journal-title":"Pediatr Res"},{"issue":"2","key":"496_CR14","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/j.jpeds.2003.10.055","volume":"144","author":"W Albuquerque","year":"2004","unstructured":"Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminase-deficient severe combined immunodeficiency. J Pediatr. 2004;144(2):278\u201380.","journal-title":"J Pediatr"},{"issue":"6","key":"496_CR15","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1097\/ACI.0000000000000006","volume":"13","author":"E Grunebaum","year":"2013","unstructured":"Grunebaum E, Cohen A, Roifman CM. Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies. Curr Opin Allergy Clin Immunol. 2013;13(6):630\u20138.","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"496_CR16","doi-asserted-by":"publisher","first-page":"265","DOI":"10.3389\/fimmu.2012.00265","volume":"3","author":"AV Sauer","year":"2012","unstructured":"Sauer AV, Brigida I, Carriglio N, Aiuti A. Autoimmune dysregulation and purine metabolism in adenosine deaminase deficiency. Front Immunol. 2012;3:265.","journal-title":"Front Immunol"},{"issue":"8","key":"496_CR17","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.5858\/2001-125-1042-THOCCB","volume":"125","author":"JM Orenstein","year":"2001","unstructured":"Orenstein JM, Dieterich DT. The histopathology of 103 consecutive colonoscopy biopsies from 82 symptomatic patients with acquired immunodeficiency syndrome: original and look-back diagnoses. Arch Pathol Lab Med. 2001;125(8):1042\u20136.","journal-title":"Arch Pathol Lab Med"},{"key":"496_CR18","doi-asserted-by":"publisher","first-page":"6206085","DOI":"10.1155\/2017\/6206085","volume":"2017","author":"IA Shera","year":"2017","unstructured":"Shera IA, Khurshid SM, Bhat MS. Inflammatory duodenal polyposis associated with primary immunodeficiency disease: a novel case report. Case Rep Med. 2017;2017:6206085.","journal-title":"Case Rep Med"},{"issue":"6","key":"496_CR19","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1111\/jmp.12133","volume":"43","author":"MH Hablolvarid","year":"2014","unstructured":"Hablolvarid MH. Nodular lymphoid hyperplasia of the colon in a vervet monkey (Cholorocebous aethiops). J Med Primatol. 2014;43(6):498\u2013502.","journal-title":"J Med Primatol"},{"issue":"6","key":"496_CR20","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1182\/blood-2013-07-515528","volume":"123","author":"MA Spinner","year":"2014","unstructured":"Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809\u201321.","journal-title":"Blood"},{"issue":"5 Suppl","key":"496_CR21","doi-asserted-by":"publisher","first-page":"S249","DOI":"10.1067\/mjd.2002.108486","volume":"47","author":"JD Kayal","year":"2002","unstructured":"Kayal JD, McCall CO. Sporotrichoid cutaneous mycobacterium avium complex infection. J Am Acad Dermatol. 2002;47(5 Suppl):S249\u201350.","journal-title":"J Am Acad Dermatol"},{"issue":"2","key":"496_CR22","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1159\/000347112","volume":"226","author":"JF Chan","year":"2013","unstructured":"Chan JF, Trendell-Smith NJ, Chan JC, Hung IF, Tang BS, Cheng VC, et al. Reactive and infective dermatoses associated with adult-onset immunodeficiency due to anti-interferon-gamma autoantibody: Sweet's syndrome and beyond. Dermatology. 2013;226(2):157\u201366.","journal-title":"Dermatology"},{"issue":"2","key":"496_CR23","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1097\/DAD.0b013e31822fd00a","volume":"35","author":"JE Ollague Sierra","year":"2013","unstructured":"Ollague Sierra JE, Ollague Torres JM. New clinical and histological patterns of acute disseminated histoplasmosis in human immunodeficiency virus-positive patients with acquired immunodeficiency syndrome. Am J Dermatopathol. 2013;35(2):205\u201312.","journal-title":"Am J Dermatopathol"},{"issue":"11","key":"496_CR24","doi-asserted-by":"publisher","first-page":"1374","DOI":"10.1111\/1346-8138.13384","volume":"43","author":"MY Park","year":"2016","unstructured":"Park MY, Kim JM, Kim GW, Kim HS, Ko HC, Kim MB, et al. Refractory sclerosing panniculitis successfully treated with cyclosporin. J Dermatol. 2016;43(11):1374\u20136.","journal-title":"J Dermatol"},{"issue":"5","key":"496_CR25","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/S0952-7915(03)00104-3","volume":"15","author":"MS Hershfield","year":"2003","unstructured":"Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2003;15(5):571\u20137.","journal-title":"Curr Opin Immunol"},{"issue":"1","key":"496_CR26","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1086\/301688","volume":"62","author":"L Li","year":"1998","unstructured":"Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H, et al. The gene for severe combined immunodeficiency disease in Athabascan-speaking native Americans is located on chromosome 10p. Am J Hum Genet. 1998;62(1):136\u201344.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"496_CR27","doi-asserted-by":"publisher","first-page":"19","DOI":"10.21911\/aai.5026","volume":"14","author":"T Pat\u0131ro\u011flu","year":"2016","unstructured":"Pat\u0131ro\u011flu T, Akar HH, G\u00fcng\u00f6r HE, \u00dcnal E, Santisteban I, Hershfield M, et al. Severe combined Immunodeficiencies resulting from impaired purine metabolism: single center experience. Asthma Allergy Immunol. 2016;14(1):19\u201324.","journal-title":"Asthma Allergy Immunol"},{"issue":"7","key":"496_CR28","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1007\/s10875-015-0191-z","volume":"35","author":"R Baffelli","year":"2015","unstructured":"Baffelli R, Notarangelo LD, Imberti L, Hershfield MS, Serana F, Santisteban I, et al. Diagnosis, treatment and long-term follow up of patients with ADA deficiency: a single-center experience. J Clin Immunol. 2015;35(7):624\u201337.","journal-title":"J Clin Immunol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-018-0496-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-018-0496-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-018-0496-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,23]],"date-time":"2022-08-23T00:29:16Z","timestamp":1661214556000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-018-0496-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["496"],"URL":"https:\/\/doi.org\/10.1007\/s10875-018-0496-9","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"13 February 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 May 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}