{"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":1790699867004,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,11,7]],"date-time":"2021-11-07T00:00:00Z","timestamp":1636243200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mast cell activation disease (MCAD) includes single organ disease such as asthma, urticaria, and gastroenteritis, as well as multiorgan system involvement such as mast cell activation syndrome and anaphylaxis. Reports link MCAD with hypermobile Ehlers\u2010Danlos syndrome (hEDS), hypermobility spectrum disorder (HSD), and with primary immune deficiencies such as complement and immunoglobulin deficiencies (Ig Def). This study assesses the concurrence of these syndromes. We undertook a cohort analysis of patients seen in a community\u2010based Allergy\/Immunology clinic from 2015 to 2019. We searched for diagnostic codes for Ig Def disorders, hypermobility syndrome, hypermobile\/Ehlers\u2010Danlos syndrome, and MCADs. Of 974 patients with suspected MCAD, 449 (46%) had a diagnosis of MCAD; 496 (51%) of cases had a combination of at least two of hEDS\/HSD, MCAD, and Ig Def. Ig Def was present in 417 (43%) of patients; 188 (19.3%) had hEDS\/HSD with an Ig Def with or without MCAD and accounted for 45% of all the cases with Ig Def. Of 974 cases, 101 (10%) had hEDS\/HSD and MCAD; 207 (21%) had Ig Def and MCAD; 7 (0.7%) had Ig Def and hEDS\/HSD; and 181 (19%) had a combination of all three syndromes. Most patients (74%) with these comorbidities were female. The presence of MCAD and Ig Def should be explored in patients with hEDS\/HSD. Identifying underlying contributors to recurrent\/chronic inflammation and tissue injury is needed to tailor and personalize therapies. This, in turn, can reduce tissue damage, iatrogenic intervention, and optimize health outcomes.<\/jats:p>","DOI":"10.1002\/ajmg.c.31940","type":"journal-article","created":{"date-parts":[[2021,11,7]],"date-time":"2021-11-07T23:43:19Z","timestamp":1636328599000},"page":"473-481","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile\n                    <scp>Ehlers\u2010Danlos<\/scp>\n                    syndrome\/hypermobility spectrum disorder"],"prefix":"10.1002","volume":"187","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4144-9763","authenticated-orcid":false,"given":"Isabelle","family":"Brock","sequence":"first","affiliation":[{"name":"Comprehensive Asthma and Allergy  Tarrytown New York USA"},{"name":"Qolify  New York New York USA"},{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter","family":"Prendergast","sequence":"additional","affiliation":[{"name":"Comprehensive Asthma and Allergy  Tarrytown New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6540-7317","authenticated-orcid":false,"given":"Anne","family":"Maitland","sequence":"additional","affiliation":[{"name":"Comprehensive Asthma and Allergy  Tarrytown New York USA"},{"name":"Department of Neurology Mount Sinai\u2010South Nassau  Hewlett New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2019.07.014"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2017.06.007"},{"issue":"1238","key":"e_1_2_12_4_1","first-page":"7","article-title":"Ten warning signs of primary immunodeficiency: A new paradigm is needed for the 21st century","volume":"1238","author":"Arkwright P. 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