More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

被引:9
|
作者
Bienias, Marc [1 ]
Gabrielyan, Anastasia [1 ]
Geberzahn, Linda [1 ]
Roesen-Wolff, Angela [1 ]
Huebner, Angela [1 ]
Jacobsen, Eva-Maria [2 ]
Toepfner, Nicole [1 ]
Fang, Mingyan [3 ]
Lee-Kirsch, Min Ae [1 ]
Roesler, Joachim [1 ]
Schuetz, Catharina [1 ]
机构
[1] Tech Univ Dresden, Med Fac Carl Gustav Carus, Dept Pediat, Dresden, Germany
[2] Ulm Univ, Med Ctr, Dept Pediat, Ulm, Germany
[3] BGI Genom, Shenzhen, Peoples R China
关键词
NF-KAPPA-B; DEFICIENCY;
D O I
10.1111/pai.13441
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
引用
收藏
页码:791 / 795
页数:6
相关论文
共 50 条
  • [21] A Family with Hypogammaglobulinemia, ACTH Deficiency, Ectodermal Dysplasia and a Novel NFKB2 Mutation
    Geberzahn, Linda
    Bienias, Marc
    Roesen-Wolff, Angela
    Toepfner, Nicole
    Huebner, Angela
    Jacobsen, Eva-Maria
    Fang, Mingyan
    Lee-Kirsch, MinAe
    Roesler, Joachim
    Schuetz, Catharina
    JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S109 - S110
  • [22] Combined immunodeficiency caused by a novel homozygous NFKB1 mutation
    Mandola, Amarilla B.
    Sharfe, Nigel
    Nagdi, Zahra
    Dadi, Harjit
    Vong, Linda
    Merico, Daniele
    Ngan, Bo
    Reid, Brenda
    Roifman, Chaim M.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2021, 147 (02) : 727 - +
  • [23] Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation
    Ramakrishnan, Kesava A.
    Rae, William
    Barcenas-Morales, Gabriela
    Gao, Yifang
    Pengelly, Reuben J.
    Patel, Sanjay V.
    Kumararatne, Dinakantha S.
    Ennis, Sarah
    Doffinger, Rainer
    Faust, Saul N.
    Williams, Anthony P.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 141 (04) : 1479 - +
  • [24] Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
    Sundaram, Kruthika
    Ferro, Micol
    Hayman, Grant
    Ibrahim, Mohammad A. A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1159 - 1164
  • [25] Novel NFKB2 Pathogenic Variants in Two Unrelated Patients with Common Variable Immunodeficiency
    Kruthika Sundaram
    Micol Ferro
    Grant Hayman
    Mohammad A. A. Ibrahim
    Journal of Clinical Immunology, 2023, 43 : 1159 - 1164
  • [26] Early onset CVID and hypereosinophilia with novel VUS NFKB2 mutation c.1993A>T (p.Thr665Ser)
    Chang, Yatyng
    Lairet, Stephania
    Urschel, Daniel
    Cardenas, Melissa
    Hernandez-Trujillo, Vivian
    Calderon, Jose
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S45 - S45
  • [27] Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases
    Benhsaien, Ibtihal
    Ailal, Fatima
    Elazhary, Khadija
    El Bakkouri, Jalila
    Badou, Abdallah
    Bousfiha, Ahmed Aziz
    CASE REPORTS IN IMMUNOLOGY, 2021, 2021
  • [28] A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation
    Kotlinowski, Jerzy
    Bukowska-Strakova, Karolina
    Koppolu, Agnieszka
    Kosinska, Joanna
    Pydyn, Natalia
    Stawinski, Piotr
    Wilamowski, Mateusz
    Nowak, Witold
    Jozkowicz, Alicja
    Baran, Jaroslaw
    Ploski, Rafal
    Jura, Jolanta
    FRONTIERS IN GENETICS, 2019, 10
  • [29] A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation
    Lal, Rayhan A.
    Bachrach, Laura K.
    Hoffman, Andrew R.
    Inlora, Jingga
    Rego, Shannon
    Snyder, Michael P.
    Lewis, David B.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2017, 102 (07): : 2127 - 2130
  • [30] A novel mutation in the Nfkb2 gene generates an NFκB2 'Super repressor'
    Tucker, Elena
    O'Donnell, Kristy
    Hilton, Adrienne A.
    Metcalf, Donald
    Greig, Kylie
    Sims, Natalie A.
    Quinn, Julian M.
    Hilton, Douglas J.
    Kile, Benjamin T.
    Tarlinton, David M.
    Starr, Robyn
    CYTOKINE, 2007, 39 (01) : 43 - 43