Immunodeficiency and Severe Susceptibility to Bacteria Associated with a Loss-of-Function Homozygous Mutation of MKL1

被引:0
|
作者
Record, J. [1 ]
Malinova, D. [1 ]
Zenner, H. L. [2 ]
Plagnol, V. [3 ]
Nowak, K. [1 ]
Moulding, D. [1 ]
Bouma, G. [1 ]
Curtis, J. [2 ]
Gilmour, K. [4 ]
Hackett, S. [5 ]
Nejentsev, S. [2 ]
Thrasher, A. J. [1 ]
Burns, S. O. [6 ]
机构
[1] UCL, Inst Child Hlth, London, England
[2] Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England
[3] UCL, Genet Inst, London, England
[4] Great Ormond St Hosp Children NHS Fdn Trust, Dept Immunol, London, England
[5] Birmingham Heartland Hosp, Dept Paediat, Birmingham, W Midlands, England
[6] UCL, Inst Immun & Transplantat, London, England
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
ESID-0880
引用
收藏
页码:S502 / S503
页数:2
相关论文
共 50 条
  • [41] A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia
    Wu, Huan
    Zhang, Xin
    Shen, Qunshan
    Liu, Yiyuan
    Gao, Yang
    Wang, Guanxiong
    Lv, Mingrong
    Hua, Rong
    Xu, Yuping
    Zhou, Ping
    Wei, Zhaolian
    Tao, Fangbiao
    He, Xiaojin
    Cao, Yunxia
    Liu, Mingxi
    CLINICAL GENETICS, 2022, 101 (01) : 55 - 64
  • [42] A homozygous loss-of-function mutation in C17orf62 causes chronic granulomatous disease
    Arnadottir, G. A.
    Norddahl, G. L.
    Gudmundsdottir, S.
    Agustsdottir, A. B.
    Sigurdsson, S.
    Jensson, B. O.
    Bjarnadottir, K.
    Theodors, F.
    Benonisdottir, S.
    Ivarsdottir, E. V.
    Oddsson, A.
    Kristjansson, R. P.
    Sulem, G.
    Masson, G.
    Orvar, K. B.
    Holm, H.
    Bjornsson, S.
    Arngrimsson, R.
    Gudbjartsson, D. F.
    Thorsteinsdottir, U.
    Jonsdottir, I.
    Haraldsson, A.
    Sulem, P.
    Stefansson, K.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 835 - 836
  • [43] A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature
    Burns, Charlotte
    Cheung, Abigail
    Stark, Zornitza
    Choo, Sharon
    Downie, Lilian
    White, Sue
    Conyers, Rachel
    Cole, Theresa
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2016, 4 (04): : 777 - 779
  • [44] Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity
    Willmann, Katharina L.
    Klaver, Stefanie
    Dogu, Figen
    Santos-Valente, Elisangela
    Garncarz, Wojciech
    Bilic, Ivan
    Mace, Emily
    Salzer, Elisabeth
    Conde, Cecilia Dominguez
    Sic, Heiko
    Majek, Peter
    Banerjee, Pinaki P.
    Vladimer, Gregory I.
    Haskologlu, Sule
    Bolkent, Musa Gokalp
    Kupesiz, Alphan
    Condino-Neto, Antonio
    Colinge, Jacques
    Superti-Furga, Giulio
    Pickl, Winfried F.
    van Zelm, Menno C.
    Eibel, Hermann
    Orange, Jordan S.
    Ikinciogullari, Aydan
    Boztug, Kaan
    NATURE COMMUNICATIONS, 2014, 5
  • [45] Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity
    Katharina L. Willmann
    Stefanie Klaver
    Figen Doğu
    Elisangela Santos-Valente
    Wojciech Garncarz
    Ivan Bilic
    Emily Mace
    Elisabeth Salzer
    Cecilia Domínguez Conde
    Heiko Sic
    Peter Májek
    Pinaki P. Banerjee
    Gregory I. Vladimer
    Şule Haskoloğlu
    Musa Gökalp Bolkent
    Alphan Küpesiz
    Antonio Condino-Neto
    Jacques Colinge
    Giulio Superti-Furga
    Winfried F. Pickl
    Menno C. van Zelm
    Hermann Eibel
    Jordan S. Orange
    Aydan Ikincioğulları
    Kaan Boztuğ
    Nature Communications, 5
  • [46] RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency
    Alkhairy, Omar K.
    Rezaei, Nima
    Graham, Robert R.
    Abolhassani, Hassan
    Borte, Stephan
    Hultenby, Kjell
    Wu, Chenglin
    Aghamohammadi, Asghar
    Williams, David A.
    Behrens, Timothy W.
    Hammarstrom, Lennart
    Pan-Hammarstrom, Qiang
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (05) : 1380 - +
  • [47] A novel loss-of-function mutation of PBK associated with human kidney stone disease
    Choochai Nettuwakul
    Nunghathai Sawasdee
    Oranud Praditsap
    Nanyawan Rungroj
    Arnat Pasena
    Thanyaporn Dechtawewat
    Nipaporn Deejai
    Suchai Sritippayawan
    Santi Rojsatapong
    Wipada Chaowagul
    Pa-thai Yenchitsomanus
    Scientific Reports, 10
  • [48] A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
    Aguila, Adriana
    Salah, Somaya
    Kulasekaran, Gopinath
    Shweiki, Moatasem
    Shaul-Lotan, Nava
    Mor-Shaked, Hagar
    Daana, Muhannad
    Harel, Tamar
    Mcpherson, Peter S.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2024, 300 (04)
  • [49] A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
    Paganini, I.
    Sestini, R.
    Capone, G. L.
    Putignano, A. L.
    Contini, E.
    Giotti, I.
    Gensini, F.
    Marozza, A.
    Barilaro, A.
    Porfirio, B.
    Papi, L.
    CLINICAL GENETICS, 2017, 92 (06) : 664 - 668
  • [50] HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot
    Juan Wang
    Xiao-Qing Hu
    Yu-Han Guo
    Jian-Yun Gu
    Jia-Hong Xu
    Yan-Jie Li
    Ning Li
    Xiao-Xiao Yang
    Yi-Qing Yang
    Pediatric Cardiology, 2017, 38 : 547 - 557