A Novel Mutation in CD40LG Gene Causing X-Linked Hyper IgM Syndrome

被引:0
|
作者
Hyung Young Kim
Tae Min Um
Hee Ju Park
机构
[1] Pusan National University Yangsan Hospital,Department of Pediatrics
来源
The Indian Journal of Pediatrics | 2018年 / 85卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:788 / 789
页数:1
相关论文
共 50 条
  • [21] X-linked Hyper IgM Syndrome (HIGM): A novel pathogenic variant causing decreased function of CD40L
    Cosper, Arjola
    Eisenberg, Rachel
    Rubinstein, Arye
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S33 - S33
  • [22] X-linked hyper IgM syndrome: A report of the first case in Thailand with a confirmed mutation of CD40 ligand gene
    Santadusit, S
    Visitsunthon, N
    Ochs, HD
    Vichyanond, P
    ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2000, 18 (03): : 165 - 168
  • [23] X-linked hyper-IGM syndrome and mutations of the CD40 ligand gene.
    Seyama, K
    Bajorath, J
    Nonoyama, S
    Ganggsass, J
    Aruffo, A
    Ochs, HD
    FASEB JOURNAL, 1996, 10 (06): : 1206 - 1206
  • [24] CD40 LIGAND GENE DEFECTS RESPONSIBLE FOR X-LINKED HYPER-IGM SYNDROME
    ALLEN, RC
    ARMITAGE, RJ
    CONLEY, ME
    ROSENBLATT, H
    JENKINS, NA
    COPELAND, NG
    BEDELL, MA
    EDELHOFF, S
    DISTECHE, CM
    SIMONEAUX, DK
    FANSLOW, WC
    BELMONT, J
    SPRIGGS, MK
    SCIENCE, 1993, 259 (5097) : 990 - 993
  • [25] Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG
    Imai, K
    Shimadzu, M
    Kubota, T
    Morio, T
    Matsunaga, T
    Park, YD
    Yoshioka, A
    Nonoyama, S
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2006, 1762 (03): : 335 - 340
  • [26] Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome
    Katz, F
    Hinshelwood, S
    Rutland, P
    Jones, A
    Kinnon, C
    Morgan, G
    HUMAN MUTATION, 1996, 8 (03) : 223 - 228
  • [27] X-linked hyper IgM syndrome
    Schneider, LC
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY, 2000, 19 (02) : 205 - 215
  • [28] X-linked hyper IgM syndrome
    Lynda C. Schneider
    Clinical Reviews in Allergy & Immunology, 2000, 19 : 205 - 215
  • [29] Normal CD40L Expression in an Infant with X-Linked Hyper IgM Syndrome By Gene Sequencing
    Pickell, Jeremy A.
    Gallagher, Joel L.
    Chang, Yenhui
    Patel, Niraj C.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (02) : AB12 - AB12
  • [30] Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG
    Rigaud, Stephanie
    Lopez-Granados, Eduardo
    Siberil, Sophie
    Gloire, Geoffrey
    Lambert, Nathalie
    Lenoir, Christelle
    Synaeve, Cindy
    Stacey, Maria
    Fugger, Lars
    Stephan, Jean-Louis
    Fischer, Alain
    Picard, Capucine
    Durandy, Anne
    Chapel, Helen
    Latour, Sylvain
    BLOOD, 2011, 118 (02) : 252 - 261