Identification of a Novel Nonsense Mutation in NFKB1 Causing Common Variable Immunodeficiency with Decreased Tfh Cells

被引：1

作者：

Li, Rui ^{[1
]}

Qian, Jinjing ^{[1
]}

Wang, Runci ^{[1
]}

Wu, Chunmei ^{[1
]}

Fu, Qiong ^{[1
]}

Lu, Liangjing ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Renji Hosp, Dept Rheumatol, Sch Med, Shanghai 200001, Peoples R China

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2023年 / 43卷 / 08期

基金：

中国国家自然科学基金;

关键词：

NF-KAPPA-B;

D O I：

10.1007/s10875-023-01588-3

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：1784 / 1787

页数：4

共 9 条

[1] Combined immunodeficiency caused by a novel homozygous NFKB1 mutation
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Merico, Daniele
Ngan, Bo
Reid, Brenda
Roifman, Chaim M.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2021, 147 (02) : 727 - +
[2] Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
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De Keukeleere, Kerstin
Kinnunen, Matias
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Lorenzetti, Flaminia
Vanmeert, Michiel
Prezzemolo, Teresa
Pasciuto, Emanuela
Lescrinier, Eveline
Bossuyt, Xavier
Gerbaux, Margaux
Willemsen, Mathijs
Neumann, Julika
Van Loo, Sien
Corveleyn, Anniek
Willekens, Karen
Stalmans, Ingeborg
Meyts, Isabelle
Liston, Adrian
Humblet-Baron, Stephanie
Seppanen, Mikko
Varjosalo, Markku
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FRONTIERS IN IMMUNOLOGY, 2022, 13
[3] Novel heterozygous NFKB1 mutation-variable penetrance in a family cohort
Mandola, Amarilla B.
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LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2019, 6 (03): : 95 - 105
[4] A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage
Fliegauf, Manfred
Krueger, Renate
Steiner, Sophie
Hanitsch, Leif Gunnar
Buechel, Sarah
Wahn, Volker
von Bernuth, Horst
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FRONTIERS IN IMMUNOLOGY, 2021, 12
[5] Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency
Li, Juan
Lei, Wei-Te
Zhang, Peng
Rapaport, Franck
Seeleuthner, Yoann
Lyu, Bingnan
Asano, Takaki
Rosain, Jeremie
Hammadi, Boualem
Zhang, Yu
Pelham, Simon J.
Spaan, Andras N.
Migaud, Melanie
Hum, David
Bigio, Benedetta
Chrabieh, Maya
Beziat, Vivien
Bustamante, Jacinta
Zhang, Shen-Ying
Jouanguy, Emmanuelle
Boisson-Dupuis, Stephanie
El Baghdadi, Jamila
Aimanianda, Vishukumar
Thoma, Katharina
Fliegauf, Manfred
Grimbacher, Bodo
Korganow, Anne-Sophie
Saunders, Carol
Rao, V. Koneti
Uzel, Gulbu
Freeman, Alexandra F.
Holland, Steven M.
Su, Helen C.
Cunningham-Rundles, Charlotte
Fieschi, Claire
Abel, Laurent
Puel, Anne
Cobat, Aurelie
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Zhang, Qian
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JOURNAL OF EXPERIMENTAL MEDICINE, 2021, 218 (11):
[6] Novel heterozygous NFKB1 mutation in a pediatric patient with cytopenias, splenomegaly, and lymphadenopathy
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Feanny, Stephen
LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2019, 6 (02): : 61 - 67
[7] Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID
Liu, Anli
Liu, Qiang
Leng, Shaoqiu
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Feng, Qi
Peng, Jun
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CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2023, 211 (01): : 68 - 77
[8] Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1
Anim, Manfred
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Schmidt, Gunnar
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FRONTIERS IN IMMUNOLOGY, 2021, 12
[9] NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature
Shi, Chuan
Wang, Fen
Tong, Anli
Zhang, Xiao-Qian
Song, Hong-Mei
Liu, Zheng-Yin
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MEDICINE, 2016, 95 (40)

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