{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:37:47Z","timestamp":1790699867074,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,6]],"date-time":"2017-03-06T00:00:00Z","timestamp":1488758400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes. An abundance of MC reside in connective tissue that borders with the external world (the skin as well as gastrointestinal, respiratory, and urogenital tracts). Situated near nerve fibers, lymphatics, and blood vessels, as well as coupled with their ability to secrete potent mediators, MCs can modulate the function of local and distant structures (e.g., other immune cell populations, fibroblasts, angiogenesis), and MC dysregulation has been implicated in immediate and delayed hypersensitivity syndromes, neuropathies, and connective tissue disorders (CTDs). This report reviews basic biology of mast cells and mast cell activation as well as recent research efforts, which implicate a role of MC dysregulation beyond atopic disorders and in a cluster of Ehlers\u2013Danlos Syndromes, non\u2010IGE mediated hypersensitivity disorders, and dysautonomia. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31555","type":"journal-article","created":{"date-parts":[[2017,3,6]],"date-time":"2017-03-06T05:56:41Z","timestamp":1488779801000},"page":"226-236","source":"Crossref","is-referenced-by-count":101,"title":["Mast cell disorders in Ehlers\u2013Danlos syndrome"],"prefix":"10.1002","volume":"175","author":[{"given":"Suranjith L.","family":"Seneviratne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6540-7317","authenticated-orcid":false,"given":"Anne","family":"Maitland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence","family":"Afrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2013.02.030"},{"key":"e_1_2_7_3_1","first-page":"312","volume-title":"Mast cells: Phenotypic features, biological functions and role in immunity","author":"Afrin LB","year":"2013"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.5315\/wjh.v3.i1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2014.03.007"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.08.035"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.02.019"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01324"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1500611"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2001.00817.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1309\/2EWQKN00PG02JKY0"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-012-0326-8"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.12.1146"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.53.12.841-c"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.14.6199-6210.2005"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/nmo.12535"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.2109"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-015-0583-8"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.04.037"},{"key":"e_1_2_7_20_1","first-page":"54","volume-title":"WHO classification of tumors of hematopoietic and lymphoid tissues","author":"Horny HP","year":"2008"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.10.004"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2006.tb02871.x"},{"key":"e_1_2_7_23_1","volume-title":"Prevalence of allergic disorders\/mast cell activation syndrome in patients with Ehlers\u2013Danlos syndrome. Annals of allergy, asthma & immunol, A12","author":"Louisias M","year":"2013"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10517-011-1220-4"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3696"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nri1460"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1997.77.4.1033"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756-8722-4-10"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.critrevonc.2014.09.001"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/mi.2009.136"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2006.062224"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/ar1446"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2013.04.001"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-014-0213-2"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2006.05.010"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/RHU.0b013e31823150b5"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2009.12.981"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31430"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1409760"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1159\/000328760"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124912"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.5056\/jnm15137"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31555","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T16:45:31Z","timestamp":1694623531000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.c.31555"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31555","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}