{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T10:59:00Z","timestamp":1793876340310,"version":"4.7.0"},"reference-count":42,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,12,5]],"date-time":"2019-12-05T00:00:00Z","timestamp":1575504000000},"content-version":"am","delay-in-days":369,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1016\/j.jaci.2018.02.055","type":"journal-article","created":{"date-parts":[[2018,5,3]],"date-time":"2018-05-03T22:41:18Z","timestamp":1525387278000},"page":"1932-1946","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":440,"title":["Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4\u2013insufficient subjects"],"prefix":"10.1016","volume":"142","author":[{"given":"Charlotte","family":"Schwab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie","family":"Gabrysch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Olbrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Pati\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Warnatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Wolff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masao","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohsuke","family":"Imai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masatoshi","family":"Takagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingunn","family":"Dybedal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamanda A.","family":"Haddock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David M.","family":"Sansom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Lucena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Seidl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Schmitt-Graeff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Reiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Emmerich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Frede","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alla","family":"Bulashevska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Salzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desir\u00e9e","family":"Schubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiichi","family":"Hayakawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kanariou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeynep Yesim","family":"Kucuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Chapdelaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Petruzelkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zdenek","family":"Sumnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sediva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Slatter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D.","family":"Arkwright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Cant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns-Martin","family":"Lorenz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Giese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vassilios","family":"Lougaris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Plebani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Price","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen E.","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Moutschen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiri","family":"Litzman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Freiberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank L.","family":"van de Veerdonk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Recher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H.","family":"Albert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Hauck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suranjith","family":"Seneviratne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Pachlopnik Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonios","family":"Kolios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary","family":"Unglik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Klemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Speckmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Ehl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Leichtner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Blumberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Franke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Snapper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Zeissig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Cunningham-Rundles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Giulino-Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Elemento","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"D\u00fcckers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Niehues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Fronkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronika","family":"Kanderov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig D.","family":"Platt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talal A.","family":"Chatila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raif","family":"Geha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"McDermott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su","family":"Bunn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Kurzai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ansgar","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laia","family":"Alsina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferran","family":"Casals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Dey\u00e0-Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Hambleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kjetil","family":"Task\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Neth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bodo","family":"Grimbacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2018.02.055_bib1","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1126\/science.1255904","article-title":"Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4","volume":"345","author":"Kuehn","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.jaci.2018.02.055_bib2","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/nm.3746","article-title":"Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations","volume":"20","author":"Schubert","year":"2014","journal-title":"Nat Med"},{"key":"10.1016\/j.jaci.2018.02.055_bib3","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1136\/gutjnl-2014-308541","article-title":"Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4","volume":"64","author":"Zeissig","year":"2015","journal-title":"Gut"},{"key":"10.1016\/j.jaci.2018.02.055_bib4","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1084\/jem.192.2.303","article-title":"Immunologic self-tolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4","volume":"192","author":"Takahashi","year":"2000","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.02.055_bib5","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1084\/jem.192.2.295","article-title":"Cytotoxic T lymphocyte-associated antigen 4 plays an essential role in the function of CD25(+)CD4(+) regulatory cells that control intestinal inflammation","volume":"192","author":"Read","year":"2000","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.02.055_bib6","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1126\/science.1079490","article-title":"Control of regulatory T cell development by the transcription factor Foxp3","volume":"299","author":"Hori","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.jaci.2018.02.055_bib7","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1084\/jem.20081811","article-title":"CD4+\u00a0regulatory T cells require CTLA-4 for the maintenance of systemic tolerance","volume":"206","author":"Friedline","year":"2009","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.02.055_bib8","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1126\/science.1160062","article-title":"CTLA-4 control over Foxp3+ regulatory T cell function","volume":"322","author":"Wing","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.jaci.2018.02.055_bib9","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.jaut.2013.06.006","article-title":"Treg and CTLA-4: two intertwining pathways to immune tolerance","volume":"45","author":"Walker","year":"2013","journal-title":"J Autoimmun"},{"key":"10.1016\/j.jaci.2018.02.055_bib10","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/S1074-7613(02)00362-X","article-title":"The\u00a0interaction properties of costimulatory molecules revisited","volume":"17","author":"Collins","year":"2002","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2018.02.055_bib11","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1600-065X.2009.00775.x","article-title":"Regulating the regulators: costimulatory signals control the homeostasis and function of regulatory T cells","volume":"229","author":"Bour-Jordan","year":"2009","journal-title":"Immunol Rev"},{"key":"10.1016\/j.jaci.2018.02.055_bib12","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1038\/nri3108","article-title":"The emerging role of CTLA4 as a cell-extrinsic regulator of T cell responses","volume":"11","author":"Walker","year":"2011","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib13","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1126\/science.1202947","article-title":"Trans-endocytosis of CD80 and CD86: a molecular basis for the cell-extrinsic function of CTLA-4","volume":"332","author":"Qureshi","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.jaci.2018.02.055_bib14","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1038\/35069112","article-title":"Structural basis for co-stimulation by the human CTLA-4\/B7-2 complex","volume":"410","author":"Schwartz","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2018.02.055_bib15","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.jaci.2016.01.045","article-title":"Hematopoietic stem cell transplantation for CTLA4 deficiency","volume":"138","author":"Slatter","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib16","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1007\/s10875-015-0221-x","article-title":"A patient with CTLA-4 haploinsufficiency presenting gastric cancer","volume":"36","author":"Hayakawa","year":"2016","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib17","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.clim.2018.01.001","article-title":"Study of an extended family with CTLA-4 deficiency suggests a CD28\/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity","volume":"188","author":"Hou","year":"2018","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib18","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.jaci.2017.02.032","article-title":"CTLA-4 haploinsufficiency in a patient with an autoimmune lymphoproliferative disorder","volume":"140","author":"Kucuk","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib19","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.jaci.2016.08.042","article-title":"Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis","volume":"139","author":"Navarini","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib20","unstructured":"European Society for Immunodeficiencies. New clinical diagnosis criteria for the ESID Registry. Available at: https:\/\/esid.org\/Working-Parties\/Registry\/Diagnosis-criteria. Accessed May 16, 2018."},{"key":"10.1016\/j.jaci.2018.02.055_bib21","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s10875-015-0201-1","article-title":"Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015","volume":"35","author":"Picard","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib22","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1182\/blood-2016-10-745174","article-title":"Identifying\u00a0functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations","volume":"129","author":"Hou","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.02.055_bib23","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1126\/science.aaa1663","article-title":"Autoimmune\u00a0disease. Patients with LRBA deficiency show CTLA4 loss and\u00a0immune dysregulation responsive to abatacept therapy","volume":"349","author":"Lo","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jaci.2018.02.055_bib24","doi-asserted-by":"crossref","first-page":"e35","DOI":"10.1182\/blood-2010-04-280347","article-title":"Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop","volume":"116","author":"Oliveira","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.02.055_bib25","doi-asserted-by":"crossref","first-page":"211","DOI":"10.3389\/fimmu.2012.00211","article-title":"Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity","volume":"3","author":"Barzaghi","year":"2012","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib26","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jaci.2014.10.019","article-title":"Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA","volume":"135","author":"Charbonnier","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib27","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1038\/ng.3040","article-title":"Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease","volume":"46","author":"Flanagan","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2018.02.055_bib28","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/ni904","article-title":"Foxp3 programs the development and function of CD4+CD25+ regulatory T cells","volume":"4","author":"Fontenot","year":"2003","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib29","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2015.09.025","article-title":"The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency","volume":"137","author":"Gamez-Diaz","year":"2016","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib30","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.ajhg.2012.04.015","article-title":"Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity","volume":"90","author":"Lopez-Herrera","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2018.02.055_bib31","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1182\/blood-2014-09-602763","article-title":"Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations","volume":"125","author":"Milner","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.02.055_bib32","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1007\/s12026-007-0022-2","article-title":"IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity","volume":"38","author":"Ochs","year":"2007","journal-title":"Immunol Res"},{"key":"10.1016\/j.jaci.2018.02.055_bib33","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1097\/MIB.0000000000000266","article-title":"Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype","volume":"21","author":"Serwas","year":"2015","journal-title":"Inflamm Bowel Dis"},{"key":"10.1016\/j.jaci.2018.02.055_bib34","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1016\/j.jaci.2014.10.048","article-title":"Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency","volume":"135","author":"Seidel","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib35","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/j.clim.2015.04.007","article-title":"Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation","volume":"159","author":"Revel-Vilk","year":"2015","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib36","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1210\/jc.2015-3382","article-title":"Infancy-onset T1DM, short stature, and severe immunodysregulation in two siblings with a homozygous LRBA mutation","volume":"101","author":"Schreiner","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jaci.2018.02.055_bib37","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/j.jaci.2012.05.043","article-title":"LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency","volume":"130","author":"Alangari","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib38","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s10875-015-0224-7","article-title":"Spectrum of phenotypes associated with mutations in LRBA","volume":"36","author":"Alkhairy","year":"2016","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib39","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1016\/j.jaci.2012.07.035","article-title":"LRBA\u00a0gene\u00a0deletion in a patient presenting with autoimmunity without hypogammaglobulinemia","volume":"130","author":"Burns","year":"2012","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib40","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.clim.2016.03.006","article-title":"LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis","volume":"168","author":"Levy","year":"2016","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib41","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/s10875-015-0220-y","article-title":"A successful HSCT in a girl with novel LRBA mutation with refractory celiac disease","volume":"36","author":"Sari","year":"2016","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.02.055_bib42","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1007\/s10875-016-0289-y","article-title":"Successful hematopoietic stem cell transplantation in a patient with LPS-responsive beige-like anchor (LRBA) gene mutation","volume":"36","author":"Tesi","year":"2016","journal-title":"J Clin Immunol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674918306304?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674918306304?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:15:19Z","timestamp":1758791719000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674918306304"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":42,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["S0091674918306304"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2018.02.055","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.733180435.793572300","asserted-by":"object"}]},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4\u2013insufficient subjects","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2018.02.055","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}