X-linked hyper-IgM syndrome (XHIGM): Case report from Romania with novel mutation of CD40LG

被引：0
|
作者：
Capilna, B. R. [1 ]
Toth, R. [2 ,3 ]
Balas, Borka R. [3 ,4 ]
Capilna, T. E. [3 ]
机构：
[1] Cty Emergency Clin Hosp Tirgu Mures, Pediat Clin, Dept Allergol Immunol, Targu Mures, Romania
[2] Cty Emergency Clin Hosp Tirgu Mures, Targu Mures, Romania
[3] Univ Med Pharm Sci & Technol Tirgu Mures, Targu Mures, Romania
[4] Cty Emergency Clin Hosp Tirgu Mures, Pediat Clin, Targu Mures, Romania
来源：
ALLERGY | 2020年 / 75卷
关键词：
D O I：
暂无
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
1457
引用
收藏
页码：187 / 187
页数：1
相关论文
共 50 条
  • [41] An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked Hyper-IgM syndrome)
    Webster, EA
    Khakoo, AY
    Mackus, WJM
    Karpusas, M
    Thomas, DW
    Davidson, A
    Christian, CL
    Lederman, S
    ARTHRITIS AND RHEUMATISM, 1999, 42 (06): : 1291 - 1296
  • [42] X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran
    Torabizadeh, Mehdi
    Nabavi, Mohammad
    Zadkarami, Masoud
    Shahrooei, Mohammad
    CURRENT RESEARCH IN TRANSLATIONAL MEDICINE, 2019, 67 (01) : 28 - 30
  • [43] Gene therapy for X-linked hyper-IgM syndrome.
    Zoltick, PW
    Genin, A
    Flake, AW
    Cron, RQ
    CLINICAL IMMUNOLOGY, 2005, 116 (03) : 304 - 304
  • [44] PRENATAL-DIAGNOSIS OF X-LINKED HYPER-IGM SYNDROME
    DISANTO, JP
    MARKIEWICZ, S
    GAUCHAT, JF
    BONNEFOY, JY
    FISCHER, A
    DESAINTBASILE, G
    NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (14): : 969 - 973
  • [45] Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis
    Lopez-Granados, Eduardo
    Temmerman, Stephane T.
    Wu, Lynne
    Reynolds, James C.
    Follmann, Dean
    Liu, Shuying
    Nelson, David L.
    Rauch, Frank
    Jain, Ashish
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (12) : 5056 - 5061
  • [46] Mutation of the CD40L Gene in X-Linked Hyper-IgM Syndrome: Two Case Reports in Sibling Chinese Patients and a Literature Review
    Du, Zhenlan
    Chen, Peng
    IRANIAN JOURNAL OF PEDIATRICS, 2019, 29 (03)
  • [47] CD40: CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes
    Bhushan, A
    Covey, LR
    IMMUNOLOGIC RESEARCH, 2001, 24 (03) : 311 - 324
  • [48] CD40: CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes
    Amessha Bhushan
    Lori R. Covey
    Immunologic Research, 2001, 24 : 311 - 324
  • [49] CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome
    Notarangelo, LD
    Peitsch, MC
    Abrahamsen, TG
    Bachelot, C
    Bordigoni, P
    Cant, AJ
    Chapel, H
    Clementi, M
    Deacock, S
    de Saint Basile, G
    Duse, M
    Espanol, T
    Etzioni, A
    Fasth, A
    Fischer, A
    Giliani, S
    Gomez, L
    Hammarstorm, L
    Jones, A
    Kanariou, M
    Kinnon, C
    Klemola, T
    Kroczek, RA
    Levy, J
    Matamoros, N
    Monafo, V
    Paolucci, P
    Reznick, I
    Sanal, O
    Smith, CIE
    Thompson, RA
    Tovo, P
    Villa, A
    Vihinen, M
    Vossen, J
    Zegers, BJ
    IMMUNOLOGY TODAY, 1996, 17 (11): : 511 - 516
  • [50] 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
12345