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Pitt\u2013Hopkins syndrome represents a specific subset of patients with 18q\u2010 who have a proximal deletion involving the <jats:italic>TCF4<\/jats:italic> gene or a <jats:italic>TCF4<\/jats:italic> variant. Immunodeficiency has been reported in the overall 18q\u2010 population; however, immunodeficiency with Pitt\u2010Hopkins syndrome has not been highlighted. This case report details the immunologic evaluations and the associated infections seen in a young adult with Pitt\u2013Hopkins syndrome to underscore the challenges of managing adults with a complex phenotype who develop frequent infections. This patient with Pitt\u2013Hopkins syndrome ultimately fulfilled the diagnostic criteria for common variable immunodeficiency. Immunoglobulin replacement has led to a somewhat improved infection pattern, although she continues to have aspiration events leading to pneumonia. This case highlights the clinical evolution of Pitt\u2013Hopkins syndrome and serves as a reminder that immunodeficiency can occur in this syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.63490","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T04:43:53Z","timestamp":1702097033000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A patient with <scp>Pitt\u2013Hopkins<\/scp> syndrome with concomitant common variable immunodeficiency"],"prefix":"10.1002","volume":"194","author":[{"given":"Shahzara","family":"Malik","sequence":"first","affiliation":[{"name":"College of Medicine and Health Sciences, Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU)  Dubai United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Latoya","family":"Jeanpierre","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Cianferoni","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Ruffner","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4018-1646","authenticated-orcid":false,"given":"Kathleen E.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,8]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.004"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/schbul\/sbq035"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0422-2"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1744-313X.2007.00652.x"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073817750490"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/pedi.12235"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/20587384211039400"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.742834"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aav5599"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.6.453"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.04.064"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.2100010"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2010.06.012"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.4274\/Jcrpe.1183"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14206"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/RHU.0b013e31823e6df7"},{"issue":"2","key":"e_1_2_13_18_1","first-page":"155","article-title":"Conversion of selective IgA deficiency to common variable immunodeficiency in an adolescent female with 18q deletion syndrome","volume":"156","author":"Slyper A. 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