{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T00:57:27Z","timestamp":1769302647255,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T00:00:00Z","timestamp":1291939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X\u2010linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl, later referred to as Hoffman syndrome. We report on a 7\u2010year\u2010old girl with almost complete loss of B cells, facial dysmorphism, and malformation of the limbs and genitalia, whose mother shows similar dysmorphic features with an attenuated version of the B\u2010cell deficiency. We believe that all three cases described above represent the same condition. The features of the three affected individuals with Hoffman syndrome are reviewed. Further investigations in this recently recognized B\u2010cell immunodeficiency syndrome are warranted. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33678","type":"journal-article","created":{"date-parts":[[2010,12,10]],"date-time":"2010-12-10T20:03:33Z","timestamp":1292011413000},"page":"149-153","source":"Crossref","is-referenced-by-count":12,"title":["Hoffman syndrome: New patients, new insights"],"prefix":"10.1002","volume":"155","author":[{"given":"Boris","family":"H\u00fcgle","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hal","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinna","family":"Gebauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"Suchowerskyj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich","family":"Sack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Schuster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,12,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.488"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200101000-00001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404476"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.iy.12.040194.001001"},{"key":"e_1_2_5_6_1","volume-title":"Immunologic disorders in infants & children","author":"Ming J","year":"2004"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<378::AID-AJMG2>3.0.CO;2-H"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/714037692"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20591"},{"key":"e_1_2_5_10_1","first-page":"2475","article-title":"MTCP\u20101: A novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha\/delta locus in mature T cell proliferations","volume":"8","author":"Stern MH","year":"1993","journal-title":"Oncogene"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00349.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.5.1544"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33678","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:19:44Z","timestamp":1697653184000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,12,10]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/ajmg.a.33678"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33678","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,12,10]]}}}