Novel Hypomorphic BTK Variant in X-Linked Agammaglobulinemia of a Kindred

被引：0
|
作者：
Cajuste, Ruth [1 ]
Shaffren, Serena [2 ]
Nomula, Kranthi [1 ]
Blair, Grace [1 ]
Hajirawala, Monica [3 ,4 ]
Sriaroon, Panida [3 ,4 ]
Dudas, Bob [2 ]
Walter, Jolan [3 ,4 ]
机构：
[1] USF Hlth, Dept Pediat Allergy & Immunol, Tampa, FL USA
[2] Johns Hopkins All Childrens Hosp, St Petersburg, FL USA
[3] Univ S Florida, Tampa, FL USA
[4] Johns Hopkins Univ, Baltimore, MD USA
来源：
CLINICAL IMMUNOLOGY | 2024年 / 262卷
关键词：
X-linked agammaglobulinemia; Hypomorphic Bruton tyrosine kinase variant; Recurrent infections; Immunodeficiency; Inborn error of immunity;
D O I：
10.1016/j.clim.2024.110130
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
188
引用
收藏
页数：3
相关论文
共 50 条
  • [21] Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male
    Shaka, Zoha
    Mojtabavi, Helia
    Rayzan, Elham
    Zoghi, Samaneh
    Shahkarami, Sepideh
    Raul, Jimenez Heredia
    Sedighi, Iraj
    Boztug, Kaan
    Rezaei, Nima
    ALLERGOLOGIA ET IMMUNOPATHOLOGIA, 2021, 49 (02) : 80 - 83
  • [22] X-Linked Agammaglobulinemia
    Tricas Aizpun, L.
    Iglesias, M.
    Gonzalez, D.
    Asplund, A. C.
    Smith, C. I. E.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S423 - S423
  • [23] Two novel mutations in X-linked agammaglobulinemia
    Kondratenko, IV
    Gomez, L
    Tverskaya, SM
    Resnick, IB
    MOLECULAR IMMUNOLOGY, 1998, 35 (11-12) : 721 - 721
  • [24] X-LINKED AGAMMAGLOBULINEMIA
    GODDARD, EA
    BEATTY, DW
    SOUTH AFRICAN MEDICAL JOURNAL, 1989, 76 (11): : 605 - 607
  • [25] X-LINKED AGAMMAGLOBULINEMIA
    TIMMERS, E
    DEWEERS, M
    ALT, FW
    HENDRIKS, RW
    SCHUURMAN, RKB
    CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1991, 61 (02): : S83 - S93
  • [26] X-linked agammaglobulinemia
    Conley, ME
    Rohrer, J
    Minegishi, Y
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY, 2000, 19 (02) : 183 - 204
  • [27] X-linked Agammaglobulinemia
    Suri, Deepti
    Rawat, Amit
    Singh, Surjit
    INDIAN JOURNAL OF PEDIATRICS, 2016, 83 (04): : 331 - 337
  • [28] X-linked Agammaglobulinemia
    Deepti Suri
    Amit Rawat
    Surjit Singh
    The Indian Journal of Pediatrics, 2016, 83 : 331 - 337
  • [29] X-linked agammaglobulinemia
    Mary Ellen Conley
    Jurg Rohrer
    Yoshiyuki Minegishi
    Clinical Reviews in Allergy & Immunology, 2000, 19 : 183 - 204
  • [30] X-linked agammaglobulinemia
    Gaspar, HB
    Kinnon, C
    IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2001, 21 (01) : 23 - +
12345