title: Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.
abstract: 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-21 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 CD40L 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 CD40L gene and expanded our understanding of XHIGM.
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Lin-Lin
authors.initials: LL
authors.lastname: Wang
authors.affiliation: Department of Nephrology and Rheumatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhou
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China ; Division of Allergy and Immunology, Department of Pediatrics, Virginia Commonwealth University, Richmond, VA 23298, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhao
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Zhi-Qing
authors.initials: ZQ
authors.lastname: Tian
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Wei-Fan
authors.initials: WF
authors.lastname: Wang
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors.forename: Xiao-Fang
authors.initials: XF
authors.lastname: Wang
authors.affiliation: Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China ; Department of Nephrology and Rheumatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China ; Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, 1678 Dongfang Road, Shanghai 200127, China.
authors.forename: Tong-Xin
authors.initials: TX
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000740:Anemia / Q000209:etiology; D044466:Asian People / Q000235:genetics*; D001500:BCG Vaccine / Q000009:adverse effects; D023201:CD40 Ligand / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D005820:Genetic Testing; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D009164:Mycobacterium Infections / Q000209:etiology; D011379:Prognosis; D014184:Transplantation, Homologous; D055815:Young Adult
chemical_list: D001500:BCG Vaccine; D023201:CD40 Ligand