Heterozygous gain-of-function variants in IFIH1 are associated with desqamative interstital pneumonia

被引：0
|
作者：
Herkner, M. [1 ]
Rapp, C. [1 ]
Rutjes, N. W. [2 ]
Corullon, Castillo S. [3 ]
Schmitt-Grohe, S. [4 ]
Cobanoglu, N. [5 ]
Zissler, U. [6 ,7 ]
Griese, M. [1 ]
Gothe, F. [1 ]
机构：
[1] LMU Munchen, Dr von Hauner Childrens Hosp, Munich, Germany
[2] Amsterdam UMC, Emmas Childrens Hosp, Pediat Pulmonol, Amsterdam, Netherlands
[3] Hosp Clin Univ Valencia, Pediat Pulmonol, Fdn Invest, Valencia, Spain
[4] Univ Hosp Erlangen, Pediat Pulmonol, Erlangen, Germany
[5] Ankara Univ Hosp, Pediat Pulmonol, Ankara, Turkiye
[6] Helmholtz Ctr Munich, Munich, Germany
[7] Tech Univ Munich, Ctr Allergy & Environm ZAUM, Munich, Germany
来源：
KLINISCHE PADIATRIE | 2024年 / 236卷 / 02期
关键词：
D O I：
10.1055/s-0044-1779405
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
0059
引用
收藏
页码：S26 / S27
页数：2
相关论文
共 50 条
  • [11] Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency
    Magg, Thomas
    Okano, Tsubasa
    Koenig, Lars M.
    Boehmer, Daniel F. R.
    Schwartz, Samantha L.
    Inoue, Kento
    Heimall, Jennifer
    Licciardi, Francesco
    Ley-Zaporozhan, Julia
    Ferdman, Ronald M.
    Caballero-Oteyza, Andres
    Park, Esther N.
    Calderon, Brenda M.
    Dey, Debayan
    Kanegane, Hirokazu
    Cho, Kazutoshi
    Montin, Davide
    Reiter, Karl
    Griese, Matthias
    Albert, Michael H.
    Rohlfs, Meino
    Gray, Paul
    Walz, Christoph
    Conn, Graeme L.
    Sullivan, Kathleen E.
    Klein, Christoph
    Morio, Tomohiro
    Hauck, Fabian
    SCIENCE IMMUNOLOGY, 2021, 6 (60)
  • [12] Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
    Ruaud, Lyse
    Rice, Gillian I.
    Cabrol, Christelle
    Piard, Juliette
    Rodero, Mathieu
    van Eyk, Lien
    Boucher-Brischoux, Elise
    de Noordhout, Alain Maertens
    Mare, Ricardo
    Scalais, Emmanuel
    Pauly, Fernand
    Debray, Francois-Guillaume
    Dobyns, William
    Uggenti, Carolina
    Park, Ji Woo
    Hur, Sun
    Livingston, John H.
    Crow, Yanick J.
    Van Maldergem, Lionel
    HUMAN MUTATION, 2018, 39 (08) : 1076 - 1080
  • [13] Case Report: Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
    Xiao, Wei
    Feng, Jie
    Long, Hongyu
    Xiao, Bo
    Luo, Zhaohui H.
    FRONTIERS IN GENETICS, 2021, 12
  • [14] Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
    Wang, C.
    Ahlford, A.
    Laxman, N.
    Nordmark, G.
    Eloranta, M-L
    Gunnarsson, I.
    Svenungsson, E.
    Padyukov, L.
    Sturfelt, G.
    Jonsen, A.
    Bengtsson, A. A.
    Truedsson, L.
    Rantapaa-Dahlqvist, S.
    Sjowall, C.
    Sandling, J. K.
    Ronnblom, L.
    Syvanen, A-C
    GENES AND IMMUNITY, 2013, 14 (04) : 217 - 222
  • [15] A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
    Sacco, Keith
    Kuehn, Hye Sun
    Kawai, Tomoki
    Alsaati, Nouf
    Smith, Lauren
    Davila, Blachy
    Bundy, Vanessa
    Kuhns, Douglas B.
    Dobbs, Kerry
    Delmonte, Ottavia
    Notarangelo, Luigi D.
    Rosenzweig, Sergio D.
    Keller, Michael D.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (02) : 512 - 520
  • [16] A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation
    Keith Sacco
    Hye Sun Kuehn
    Tomoki Kawai
    Nouf Alsaati
    Lauren Smith
    Blachy Davila
    Vanessa Bundy
    Douglas B. Kuhns
    Kerry Dobbs
    Ottavia Delmonte
    Luigi D. Notarangelo
    Sergio D. Rosenzweig
    Michael D. Keller
    Journal of Clinical Immunology, 2023, 43 : 512 - 520
  • [17] Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes
    Zurawek, Magdalena
    Fichna, Marta
    Fichna, Piotr
    Skowronska, Bogda
    Dzikiewicz-Krawczyk, Agnieszka
    Januszkiewicz, Danuta
    Nowak, Jerzy
    DIABETES RESEARCH AND CLINICAL PRACTICE, 2015, 107 (02) : 259 - 266
  • [18] Contribution of IKBKE and IFIH1 gene variants to SLE susceptibility
    C Wang
    A Ahlford
    N Laxman
    G Nordmark
    M-L Eloranta
    I Gunnarsson
    E Svenungsson
    L Padyukov
    G Sturfelt
    A Jönsen
    A A Bengtsson
    L Truedsson
    S Rantapää-Dahlqvist
    C Sjöwall
    J K Sandling
    L Rönnblom
    A-C Syvänen
    Genes & Immunity, 2013, 14 : 217 - 222
  • [19] The IFIH1 gene variants rs1990760 and rs2111485 are associated with COVID-19 susceptibility and affect IFIH1 protein levels in Iraqis
    Majeed, Abdulraheem Y.
    Zulkafli, Nor Effa S.
    Ad'hiah, Ali H.
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2024, 25 (01)
  • [20] IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells
    Liu, Siyang
    Wang, Hongjie
    Jin, Yulan
    Podolsky, Robert
    Reddy, M. V. Prasad Linga
    Pedersen, Jennifer
    Bode, Bruce
    Reed, John
    Steed, Dennis
    Anderson, Steve
    Yang, Ping
    Muir, Andy
    Steed, Leigh
    Hopkins, Diane
    Huang, Yihua
    Purohit, Sharad
    Wang, Cong-Yi
    Steck, Andrea K.
    Montemari, Annalisa
    Eisenbarth, George
    Rewers, Marian
    She, Jin-Xiong
    HUMAN MOLECULAR GENETICS, 2009, 18 (02) : 358 - 365
12345