{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T20:39:08Z","timestamp":1793047148061,"version":"4.5.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2020,10]]},"DOI":"10.1007\/s10875-020-00843-1","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T19:05:06Z","timestamp":1597086306000},"page":"1020-1025","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant"],"prefix":"10.1007","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4942-0471","authenticated-orcid":false,"given":"Lourdes","family":"Ramirez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Tamayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanadys","family":"Ale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"key":"843_CR1","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1126\/science.1243292","volume":"342","author":"I Angulo","year":"2013","unstructured":"Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342:866\u201371.","journal-title":"Science."},{"key":"843_CR2","doi-asserted-by":"publisher","first-page":"3923","DOI":"10.1172\/JCI75746","volume":"124","author":"MC Deau","year":"2014","unstructured":"Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014;124:3923\u20138.","journal-title":"J Clin Invest"},{"key":"843_CR3","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1038\/ni.2771","volume":"15","author":"CL Lucas","year":"2014","unstructured":"Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15:88\u201397.","journal-title":"Nat Immunol"},{"key":"843_CR4","doi-asserted-by":"publisher","first-page":"2537","DOI":"10.1084\/jem.20141759","volume":"211","author":"CL Lucas","year":"2014","unstructured":"Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med. 2014;211:2537\u201347.","journal-title":"J Exp Med"},{"key":"843_CR5","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1007\/s10875-014-0012-9","volume":"34","author":"MC Crank","year":"2014","unstructured":"Crank MC, Grossman JK, Moir S, Pittaluga S, Buckner CM, Kardava L, et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014;34:272\u20136.","journal-title":"J Clin Immunol"},{"issue":"4","key":"843_CR6","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1016\/j.jaci.2017.03.026","volume":"140","author":"AJ Takeda","year":"2017","unstructured":"Takeda AJ, Zhang Y, Dornan GL, Siempelkamp BD, Jenkins ML, Matthews HF, et al. Novel PIK3CD mutations affecting N-terminal residues of p110delta cause activated PI3Kdelta syndrome (APDS) in humans. J Allergy Clin Immunol. 2017;140(4):1152\u20136.","journal-title":"J Allergy Clin Immunol"},{"issue":"7","key":"843_CR7","doi-asserted-by":"publisher","first-page":"e278","DOI":"10.3324\/haematol.2017.167601","volume":"102","author":"L Heurtier","year":"2017","unstructured":"Heurtier L, Lamrini H, Chentout L, Deau MC, Bouafia A, Rosain J, et al. Mutations in the adaptor-binding domain and associated linker region of p110delta cause activated PI3K-delta syndrome 1 (APDS1). Haematologica. 2017;102(7):e278\u201381.","journal-title":"Haematologica."},{"key":"843_CR8","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.clim.2017.01.004","volume":"176","author":"M Wentink","year":"2017","unstructured":"Wentink M, Dalm V, Lankester AC, van Schouwenburg PA, Sch\u00f6lvinck L, Kalina T, et al. Genetic defects in PI3Kdelta affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections. Clin Immunol. 2017;176:77\u201386.","journal-title":"Clin Immunol"},{"issue":"8","key":"843_CR9","doi-asserted-by":"publisher","first-page":"1982","DOI":"10.1073\/pnas.1617244114","volume":"114","author":"GL Dornan","year":"2017","unstructured":"Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, Burke JE. Conformational disruption of PI3Kdelta regulation by immunodeficiency mutations in PIK3CD and PIK3R1. Proc Natl Acad Sci U S A. 2017;114(8):1982\u20137.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"843_CR10","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1084\/jem.20112533","volume":"209","author":"ME Conley","year":"2012","unstructured":"Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K. J Exp Med. 2012;209(3):463\u201370.","journal-title":"J Exp Med"},{"key":"843_CR11","doi-asserted-by":"publisher","first-page":"2894","DOI":"10.1182\/blood-2006-07-038620","volume":"109","author":"JA Deane","year":"2007","unstructured":"Deane JA, Kharas MG, Oak JS, Stiles LN, Luo J, Moore TI, et al. T-cell function is partially maintained in the absence of class IA phosphoinositide 3-kinase signaling. Blood. 2007;109:2894\u2013902.","journal-title":"Blood."},{"key":"843_CR12","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1111\/cei.12706","volume":"183","author":"M Elgizouli","year":"2016","unstructured":"Elgizouli M, Lowe DM, Speckmann C, Schubert D, H\u00fclsd\u00fcnker J, Eskandarian Z, et al. Activating PI3Kdelta mutations in a cohort of 669 patients with primary immunodeficiency. Clin Exp Immunol. 2016;183:221\u20139.","journal-title":"Clin Exp Immunol"},{"key":"843_CR13","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1016\/j.jaci.2016.03.022","volume":"138","author":"E Elkaim","year":"2016","unstructured":"Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, et al. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: a cohort study. J Allergy Clin Immunol. 2016;138:210\u20138 e9.","journal-title":"J Allergy Clin Immunol"},{"key":"843_CR14","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.jaci.2016.06.021","volume":"139","author":"TI Coulter","year":"2017","unstructured":"Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: a large patient cohort study. J Allergy Clin Immunol. 2017;139:597\u2013606 e594.","journal-title":"J Allergy Clin Immunol"},{"key":"843_CR15","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.clim.2015.12.008","volume":"178","author":"M Chiriaco","year":"2017","unstructured":"Chiriaco M, Brigida I, Ariganello P, di Cesare S, di Matteo G, Taus F, et al. The case of an APDS patient: defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment. Clin Immunol. 2017;178:20\u20138.","journal-title":"Clin Immunol"},{"key":"843_CR16","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.jaci.2014.02.020","volume":"134","author":"S Kracker","year":"2014","unstructured":"Kracker S, Curtis J, Ibrahim MAA, Sediva A, Salisbury J, Campr V, et al. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome. J Allergy Clin Immunol. 2014;134:233\u20136.","journal-title":"J Allergy Clin Immunol"},{"key":"843_CR17","doi-asserted-by":"publisher","first-page":"369","DOI":"10.3389\/fimmu.2018.00369","volume":"9","author":"D Michalovich","year":"2018","unstructured":"Michalovich D, Nejentsev S. Activated PI3 kinase delta syndrome: from genetics to therapy. Front Immunol. 2018;9:369.","journal-title":"Front Immunol"},{"issue":"2","key":"843_CR18","first-page":"39","volume":"15","author":"RJ Gorlin","year":"1975","unstructured":"Gorlin RJ, et al. Malformation syndromes. A selected miscellany. Birth Defects Orig Artic Ser. 1975;15(2):39\u201350.","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"1","key":"843_CR19","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1097\/00019605-200301000-00008","volume":"15","author":"R Koenig","year":"2003","unstructured":"Koenig R, Brendel L, Fuchs S. SHORT syndrome. Clin Dysmorphol. 2003;15(1):45\u20139.","journal-title":"Clin Dysmorphol"},{"issue":"1","key":"843_CR20","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.ajhg.2013.05.023","volume":"15","author":"KK Chudasama","year":"2013","unstructured":"Chudasama KK, et al. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet. 2013;15(1):150\u20137.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"843_CR21","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1016\/j.ajhg.2013.06.005","volume":"15","author":"DA Dyment","year":"2013","unstructured":"Dyment DA, et al. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013;15(1):158\u201366.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"843_CR22","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.ajhg.2013.05.019","volume":"15","author":"C Thauvin-Robinet","year":"2013","unstructured":"Thauvin-Robinet C, et al. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013;15(1):141\u20139.","journal-title":"Am J Hum Genet"},{"key":"843_CR23","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1038\/sj.ijo.0802961","volume":"29","author":"D Aubin","year":"2005","unstructured":"Aubin D, Gagnon A, Sorisky A. Phosphoinositide 3-kinase is required for human adipocyte differentiation in culture. Int J Obes. 2005;29:1006\u20139.","journal-title":"Int J Obes"},{"key":"843_CR24","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1007\/s10875-016-0281-6","volume":"36","author":"S Petrovski","year":"2016","unstructured":"Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, et al. Dominant splice site mutations in PIK3R1 cause hyper IgM syndrome, lymphadenopathy and short stature. J Clin Immunol. 2016;36:462\u201371.","journal-title":"J Clin Immunol"},{"key":"843_CR25","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.clim.2017.03.004","volume":"179","author":"M Bravo Garc\u00eda-Morato","year":"2017","unstructured":"Bravo Garc\u00eda-Morato M, Garc\u00eda-Mi\u00f1a\u00far S, Molina Garicano J, Santos Simarro F, del Pino Molina L, L\u00f3pez-Granados E, et al. Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. Clin Immunol. 2017;179:77\u201380.","journal-title":"Clin Immunol"},{"key":"843_CR26","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1111\/cge.12688","volume":"89","author":"M Avila","year":"2016","unstructured":"Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, et al. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin Genet. 2016;89:501\u20136.","journal-title":"Clin Genet"},{"issue":"1","key":"843_CR27","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1186\/s13052-017-0362-z","volume":"43","author":"M Klatka","year":"2017","unstructured":"Klatka M, Rysz I, Kozyra K, Polak A, Ko\u0142\u0142\u0105taj W. SHORT syndrome in a two-year old girl \u2013 case report. Ital J Pediatr. 2017;43(1):44.","journal-title":"Ital J Pediatr"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-020-00843-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-020-00843-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-020-00843-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T23:27:38Z","timestamp":1628551658000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-020-00843-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,10]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["843"],"URL":"https:\/\/doi.org\/10.1007\/s10875-020-00843-1","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,10]]},"assertion":[{"value":"6 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2020","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":"Dr. Hanadys Ale is now a consultant for Pharming Healthcare Inc. The other authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Written informed consent was obtained from legal guardian to submit this case report to the journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}}]}}