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Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome
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نویسنده
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wang l.-l. ,zhou w. ,zhao w. ,tian z.-q. ,wang w.-f. ,wang x.-f. ,chen t.-x.
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منبع
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journal of immunology research - 2014 - دوره : 2014 - شماره : 0
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چکیده
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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. themedian 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 ofmutations on the target protein. thesemutations reflected the heterogeneity of cd40l gene and expanded our understanding of xhigm. copyright © 2014 lin-lin wang et al.
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آدرس
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department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine, China, department ofnephrology and rheumatology,shanghai children's medical center,shanghai jiao tong university school of medicine, China, department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine,shanghai,china,division of allergy and immunology,department of pediatrics,virginia commonwealth university,richmond, United States, department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine, China, department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine, China, department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine, China, department of allergy and immunology,shanghai children's medical center,shanghai jiao tong university school of medicine,shanghai,china,department ofnephrology and rheumatology,shanghai children's medical center,shanghai jiao tong university school of medicine,shanghai,china,division of immunology,institute of pediatric translational medicine,shanghai jiao tong university school of medicine,1678 dongfang road, China
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Authors
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