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
  • [31] CHARACTERIZATION OF 9 NOVEL MUTATIONS IN THE CD40 LIGAND GENE IN PATIENTS WITH X-LINKED HYPER IGM SYNDROME OF VARIOUS ANCESTRY
    MACCHI, P
    VILLA, A
    STRINA, D
    SACCO, MG
    MORALI, F
    BRUGNONI, D
    GILIANI, S
    MANTUANO, E
    FASTH, A
    ANDERSSON, B
    ZEGERS, BJM
    CAVAGNI, G
    REZNICK, I
    LEVY, J
    ZANBAR, I
    PORAT, Y
    AIRO, P
    PLEBANI, A
    VEZZONI, P
    NOTARANGELO, LD
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 56 (04) : 898 - 906
  • [32] A CD40 ligand gene splice mutation in an X-linked hyper IgM syndrome patient with presence of defective and normal cDNAs.
    Barbouche, MR
    Fathallah, DM
    Bejaoui, M
    Boukhdir, Y
    Dellagi, K
    FASEB JOURNAL, 2002, 16 (05): : A1245 - A1245
  • [33] CD40 LIGAND AND ITS ROLE IN X-LINKED HYPER-IGM SYNDROME
    CALLARD, RE
    ARMITAGE, RJ
    FANSLOW, WC
    SPRIGGS, MK
    IMMUNOLOGY TODAY, 1993, 14 (11): : 559 - 564
  • [34] CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
    Xu, Hong-bo
    Tian, Mao-qiang
    Bai, Yong-hua
    Ran, Xiao
    Li, Lei
    Chen, Yan
    BMC PEDIATRICS, 2023, 23 (01)
  • [35] CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
    Hong-bo Xu
    Mao-qiang Tian
    Yong-hua Bai
    Xiao Ran
    Lei Li
    Yan Chen
    BMC Pediatrics, 23
  • [36] De novo mutation causing X-linked hyper-IgM syndrome:: A family study in Taiwan
    Ma, YC
    Lee, WI
    Shyur, SD
    Lin, SC
    Huang, LH
    Wu, JY
    ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2005, 23 (01): : 53 - 59
  • [37] Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome
    Pacharn, Punchama
    Phongsamart, Wanatpreeya
    Boonyawat, Boonchai
    Jirapongsananuruk, Orathai
    Visitsunthorn, Nualanong
    Chokephaibulkit, Kulkanya
    ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY, 2021, 39 (01): : 31 - 34
  • [38] Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome
    Shigeaki Nonoyama
    Mitsunobu Shimadzu
    Hano Toru
    Kuniaki Seyama
    Hiroyuki Nunoi
    Michael Neubauer
    Jun-ichi Yata
    Hans D. Ochs
    Human Genetics, 1997, 99 : 624 - 627
  • [39] Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome
    Nonoyama, S
    Shimadzu, M
    Toru, H
    Seyama, K
    Nunoi, H
    Neubauer, M
    Yata, J
    Och, HD
    HUMAN GENETICS, 1997, 99 (05) : 624 - 627
  • [40] X-linked hyper IgM syndrome (XHIM) mutation analysis, CD40L function and clinical phenotype.
    Seyama, K
    Nonoyama, S
    Hollenbaugh, D
    Bajorath, J
    Hasle, H
    Kobayashi, R
    Apter, A
    Aruffo, A
    Ochs, HD
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 1997, 99 (01) : 1926 - 1926
12345