{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:35:26Z","timestamp":1791275726506,"version":"4.1.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2014,12]]},"DOI":"10.1016\/j.jaci.2014.07.019","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T06:12:39Z","timestamp":1409206359000},"page":"1354-1364.e6","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":80,"title":["Immune deficiency\u2013related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency"],"prefix":"10.1016","volume":"134","author":[{"given":"Roxane","family":"Lemoine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Pachlopnik-Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henner F.","family":"Farin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Bigorgne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Debr\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Sepulveda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"H\u00e9ritier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Lemale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Talbotec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Rieux-Laucat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Ruemmele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Morali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Cathebras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Blanche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Brousse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Clevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"de Saint Basile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2014.07.019_bib1","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.3748\/wjg.14.5491","article-title":"Inflammatory bowel diseases: a disease (s) of modern times? Is incidence still increasing?","volume":"14","author":"Gismera","year":"2008","journal-title":"World J Gastroenterol"},{"key":"10.1016\/j.jaci.2014.07.019_bib2","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1056\/NEJMra0804647","article-title":"Inflammatory bowel disease","volume":"361","author":"Abraham","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2014.07.019_bib3","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/nature06005","article-title":"Unravelling the pathogenesis of inflammatory bowel disease","volume":"448","author":"Xavier","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2014.07.019_bib4","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/ncpgasthep0528","article-title":"Mechanisms of disease: pathogenesis of Crohn's disease and ulcerative colitis","volume":"3","author":"Sartor","year":"2006","journal-title":"Nat Clin Pract Gastroenterol Hepatol"},{"key":"10.1016\/j.jaci.2014.07.019_bib5","doi-asserted-by":"crossref","first-page":"1590","DOI":"10.1016\/S0140-6736(12)60026-9","article-title":"Crohn's disease","volume":"380","author":"Baumgart","year":"2012","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2014.07.019_bib6","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.coi.2012.10.005","article-title":"Creating diseases to understand what prevents them: genetic analysis of inflammation in the gastrointestinal tract","volume":"24","author":"Brandl","year":"2012","journal-title":"Curr Opin Immunol"},{"key":"10.1016\/j.jaci.2014.07.019_bib7","doi-asserted-by":"crossref","first-page":"13780","DOI":"10.1073\/pnas.0706625104","article-title":"Molecular-phylogenetic characterization of microbial community imbalances in human inflammatory bowel diseases","volume":"104","author":"Frank","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2014.07.019_bib8","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/nature05698","article-title":"Epithelial NEMO links innate immunity to chronic intestinal inflammation","volume":"446","author":"Nenci","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2014.07.019_bib9","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1084\/jem.2001889","article-title":"T helper 1 and T helper 2 cells are pathogenic in an antigen-specific model of colitis","volume":"195","author":"Iqbal","year":"2002","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2014.07.019_bib10","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/nature11582","article-title":"Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease","volume":"491","author":"Jostins","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2014.07.019_bib11","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1007\/s00109-012-0934-8","article-title":"Etiology of Crohn's disease: many roads lead to autophagy","volume":"90","author":"Lapaquette","year":"2012","journal-title":"J Mol Med (Berl)"},{"key":"10.1016\/j.jaci.2014.07.019_bib12","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1038\/ng.717","article-title":"Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci","volume":"42","author":"Franke","year":"2010","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2014.07.019_bib13","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng.764","article-title":"Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47","volume":"43","author":"Anderson","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2014.07.019_bib14","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.tig.2009.01.001","article-title":"GWA studies: rewriting the story of IBD","volume":"25","author":"Budarf","year":"2009","journal-title":"Trends Genet"},{"key":"10.1016\/j.jaci.2014.07.019_bib15","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/nm.2069","article-title":"NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation","volume":"16","author":"Cooney","year":"2010","journal-title":"Nat Med"},{"key":"10.1016\/j.jaci.2014.07.019_bib16","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1056\/NEJMoa0907206","article-title":"Inflammatory bowel disease and mutations affecting the interleukin-10 receptor","volume":"361","author":"Glocker","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2014.07.019_bib17","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1016\/S0140-6736(10)61008-2","article-title":"Infant colitis\u2014it's in the genes","volume":"376","author":"Glocker","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2014.07.019_bib18","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.1182\/blood-2010-07-298372","article-title":"Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1\/SAP deficiency) versus type 2 (XLP-2\/XIAP deficiency)","volume":"117","author":"Pachlopnik Schmid","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2014.07.019_bib19","doi-asserted-by":"crossref","first-page":"14524","DOI":"10.1073\/pnas.0907131106","article-title":"XIAP mediates NOD signaling via interaction with RIP2","volume":"106","author":"Krieg","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.jaci.2014.07.019_bib20","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/s00281-008-0119-2","article-title":"Hyperinflammation in chronic granulomatous disease and anti-inflammatory role of the phagocyte NADPH oxidase","volume":"30","author":"Schappi","year":"2008","journal-title":"Semin Immunopathol"},{"key":"10.1016\/j.jaci.2014.07.019_bib21","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1053\/j.gastro.2014.01.015","article-title":"Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease","volume":"146","author":"Avitzur","year":"2014","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2014.07.019_bib22","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/jmedgenet-2012-101483","article-title":"Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia","volume":"50","author":"Samuels","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaci.2014.07.019_bib23","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1016\/j.jaci.2013.06.013","article-title":"Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias","volume":"132","author":"Chen","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2014.07.019_bib24","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1172\/JCI71471","article-title":"TTC7A mutations disrupt intestinal epithelial apicobasal polarity","volume":"124","author":"Bigorgne","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2014.07.019_bib25","doi-asserted-by":"crossref","first-page":"R130","DOI":"10.1186\/gb-2009-10-11-r130","article-title":"BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources","volume":"10","author":"Wu","year":"2009","journal-title":"Genome Biol"},{"key":"10.1016\/j.jaci.2014.07.019_bib26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1006\/excr.2000.5049","article-title":"Rho GTPases: signaling, migration, and invasion","volume":"261","author":"Schmitz","year":"2000","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.jaci.2014.07.019_bib27","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/nature07935","article-title":"Single Lgr5 stem cells build crypt-villus structures in\u00a0vitro without a mesenchymal niche","volume":"459","author":"Sato","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2014.07.019_bib28","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1053\/j.gastro.2011.07.050","article-title":"Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett's epithelium","volume":"141","author":"Sato","year":"2011","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2014.07.019_bib29","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1182\/blood-2004-01-0076","article-title":"Chromosomal localization, hematologic characterization, and iron metabolism of\u00a0the hereditary erythroblastic anemia (hea) mutant mouse","volume":"104","author":"White","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2014.07.019_bib30","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ygeno.2004.11.008","article-title":"Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice","volume":"85","author":"White","year":"2005","journal-title":"Genomics"},{"key":"10.1016\/j.jaci.2014.07.019_bib31","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1177\/153537020523000908","article-title":"The\u00a0Tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: a model for psoriasis, autoimmunity, and anemia","volume":"230","author":"Helms","year":"2005","journal-title":"Exp Biol Med (Maywood)"},{"key":"10.1016\/j.jaci.2014.07.019_bib32","first-page":"695","article-title":"The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype","volume":"232","author":"Takabayashi","year":"2007","journal-title":"Exp Biol Med (Maywood)"},{"issue":"suppl","key":"10.1016\/j.jaci.2014.07.019_bib33","doi-asserted-by":"crossref","first-page":"32S","DOI":"10.1038\/jid.1995.51","article-title":"Alopecia areata in humans and other mammalian species","volume":"104","author":"Sundberg","year":"1995","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jaci.2014.07.019_bib34","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1159\/000164138","article-title":"Development and progression of psoriasiform dermatitis and systemic lesions in the flaky skin (fsn) mouse mutant","volume":"65","author":"Sundberg","year":"1997","journal-title":"Pathobiology"},{"key":"10.1016\/j.jaci.2014.07.019_bib35","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1177\/104063879200400314","article-title":"Forestomach papillomas in flaky skin and steel-Dickie mutant mice","volume":"4","author":"Sundberg","year":"1992","journal-title":"J Vet Diagn Invest"},{"key":"10.1016\/j.jaci.2014.07.019_bib36","doi-asserted-by":"crossref","first-page":"2388","DOI":"10.1053\/j.gastro.2010.02.010","article-title":"Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)","volume":"138","author":"Hartley","year":"2010","journal-title":"Gastroenterology"},{"key":"10.1016\/j.jaci.2014.07.019_bib37","first-page":"4435","article-title":"Cell surface dynamics\u2014how Rho GTPases orchestrate the interplay between the plasma membrane and the cortical cytoskeleton","volume":"125","author":"de Curtis","year":"2012","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jaci.2014.07.019_bib38","doi-asserted-by":"crossref","first-page":"170","DOI":"10.4161\/cam.5.2.14403","article-title":"Dynamics of the Rho-family small GTPases in actin regulation and motility","volume":"5","author":"Spiering","year":"2011","journal-title":"Cell Adh Migr"},{"key":"10.1016\/j.jaci.2014.07.019_bib39","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.4049\/jimmunol.0803267","article-title":"Myosin-IIA and ICAM-1 regulate the interchange between two distinct modes of T cell migration","volume":"182","author":"Jacobelli","year":"2009","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2014.07.019_bib40","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/j.cell.2007.03.037","article-title":"Opposing effects of PKCtheta and WASp on symmetry breaking and relocation of the immunological synapse","volume":"129","author":"Sims","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2014.07.019_bib41","doi-asserted-by":"crossref","first-page":"2492","DOI":"10.1182\/blood-2011-03-340265","article-title":"Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming","volume":"118","author":"Bouma","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2014.07.019_bib42","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1083\/jcb.201206095","article-title":"PtdIns4P synthesis by PI4KIIIalpha at the plasma membrane and its impact on plasma membrane identity","volume":"199","author":"Nakatsu","year":"2012","journal-title":"J Cell Biol"},{"key":"10.1016\/j.jaci.2014.07.019_bibE1","doi-asserted-by":"crossref","first-page":"3765","DOI":"10.1172\/JCI40732","article-title":"Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells","volume":"119","author":"Cote","year":"2009","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2014.07.019_bibE2","doi-asserted-by":"crossref","first-page":"2323","DOI":"10.1084\/jem.20121303","article-title":"Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (\u201cFILS syndrome\u201d)","volume":"209","author":"Pachlopnik Schmid","year":"2012","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2014.07.019_bibE3","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1172\/JCI71471","article-title":"TTC7A mutations disrupt intestinal epithelial apicobasal polarity","volume":"124","author":"Bigorgne","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2014.07.019_bibE4","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1053\/j.gastro.2011.07.050","article-title":"Long-term expansion of epithelial organoids from human colon, adenoma, adenocarcinoma, and Barrett's epithelium","volume":"141","author":"Sato","year":"2011","journal-title":"Gastroenterology"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914010070?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674914010070?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T08:48:52Z","timestamp":1758790132000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674914010070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["S0091674914010070"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2014.07.019","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2014,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Immune deficiency\u2013related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency","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.2014.07.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}