{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T05:24:38Z","timestamp":1777785878740,"version":"3.51.4"},"reference-count":44,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand\/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days\u201321 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in<jats:italic>CD40L<\/jats:italic>gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of<jats:italic>CD40L<\/jats:italic>gene and expanded our understanding of XHIGM.<\/jats:p>","DOI":"10.1155\/2014\/683160","type":"journal-article","created":{"date-parts":[[2014,8,20]],"date-time":"2014-08-20T21:31:06Z","timestamp":1408570266000},"page":"1-12","source":"Crossref","is-referenced-by-count":26,"title":["Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome"],"prefix":"10.1155","volume":"2014","author":[{"given":"Lin-Lin","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Allergy and Immunology, Shanghai Children\u2019s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Shanghai Children\u2019s Medical Center, Shanghai Jiao Tong University School of 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