Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) Associated with KMT2D Gene Mutation in Kabuki Syndrome

被引：2
|
作者：
Adams, Juan A. [1 ]
Gallagher, Joel L. [1 ]
Hintermeyer, Mary [1 ]
Verbsky, James W. [1 ]
Routes, John M. [1 ]
机构：
[1] Med Coll Wisconsin, Milwaukee, WI 53226 USA
来源：
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2016年 / 137卷 / 02期
关键词：
D O I：
10.1016/j.jaci.2015.12.512
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
384
引用
收藏
页码：AB118 / AB118
页数：1
相关论文
共 50 条
  • [21] Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in Common Variable Immunodeficiency (CVID)
    Hustings, Nico
    Dubbeldam, Adriana
    Weynand, Birgit
    JOURNAL OF THE BELGIAN SOCIETY OF RADIOLOGY, 2022, 106 (01):
  • [22] Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations
    Kurahashi, Naoko
    Miyake, Noriko
    Mizuno, Seiji
    Koshimizu, Eriko
    Kurahashi, Hirokazu
    Yamada, Keitaro
    Natsume, Jun
    Aoki, Yusuke
    Nakamura, Miho
    Taniai, Hiroko
    Maki, Yuki
    Abe-Hatano, Chihiro
    Matsumoto, Naomichi
    Maruyama, Koichi
    BRAIN & DEVELOPMENT, 2017, 39 (08): : 672 - 677
  • [23] Dissecting KMT2D missense mutations in Kabuki syndrome patients
    Cocciadiferro, Dario
    Augello, Bartolomeo
    De Nittis, Pasquelena
    Zhang, Jiyuan
    Mandriani, Barbara
    Malerba, Natascia
    Squeo, Gabriella M.
    Romano, Alessandro
    Piccinni, Barbara
    Verri, Tiziano
    Micale, Lucia
    Pasqualucci, Laura
    Merla, Giuseppe
    HUMAN MOLECULAR GENETICS, 2018, 27 (21) : 3651 - 3668
  • [24] Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID)
    Park, Joon H.
    Levinson, Arnold I.
    CLINICAL IMMUNOLOGY, 2010, 134 (02) : 97 - 103
  • [25] Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in Commun Variable Immuno Deficiency (CVID)
    Archer, G.
    Catherinot, E.
    Salvator, H.
    Longchampt, E.
    Tcherakian, C.
    Bruneau, J.
    Chabrol, A.
    Chabi-Charvillat, M.
    Givel, C.
    Suarez, F.
    Lanternier, F.
    Devillier, P.
    Mahlaoui, N.
    Couderc, L.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2020, 201
  • [26] A systematic analysis of missense variants in KMT2D in Kabuki syndrome and cancer
    Faundes, V.
    Malone, G.
    Newman, W. G.
    Banka, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 477 - 478
  • [27] Functional dissection of the impact of KMT2D germline mutations in Kabuki syndrome
    Gabriele, M.
    Germain, P. L.
    Vitriolo, A.
    Merla, G.
    Testa, G.
    HUMAN GENE THERAPY, 2016, 27 (11) : A77 - A77
  • [28] A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation
    Kocaaga, Ayca
    Yimenicioglu, Sevgi
    NEUROLOGY ASIA, 2021, 26 (04) : 859 - 863
  • [29] Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
    Luperchio, Teresa Romeo
    Applegate, Carolyn D.
    Bodamer, Olaf
    Bjornsson, Hans Tomas
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (02):
  • [30] A DELAYED DIAGNOSIS OF COMMON VARIABLE IMMUNODEFICIENCY (CVID) WITH GRANULOMATOUS AND LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD)
    Sigua, J. A.
    Routes, J.
    Chase, N.
    Vasudev, M.
    Perras, J.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2011, 107 (05) : A97 - A97
12345