Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

被引：11

作者：

Fang, Ran ^{[1
]}

Wang, Jun ^{[1
]}

Jiang, Xiao-yun ^{[2
]}

Wang, Shi-hao ^{[1
]}

Cheng, Hao ^{[2
]}

Zhou, Qing ^{[1
]}

机构：

[1] Zhejiang Univ, Life Sci Inst, MOE Key Lab Biosyst Homeostasis & Protect, Hangzhou, Peoples R China

[2] Zhejiang Univ, Dept Dermatol, Sir Run Run Shaw Hosp, Sch Med, Hangzhou, Peoples R China

来源：

FRONTIERS IN GENETICS | 2021年 / 12卷

基金：

中国国家自然科学基金;

关键词：

pyoderma gangrenosum; NFKB1; novel mutation; NF-kappa B signaling pathway; inflammation; REL HOMOLOGY DOMAIN; NF-KAPPA-B1; P50; HAPLOINSUFFICIENCY; PATHOPHYSIOLOGY; SPECTRUM;

D O I：

10.3389/fgene.2021.673453

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Pyoderma gangrenosum (PG) is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Ulcerations associated with PG may occur after trauma or injury to the skin. The etiology has not been clearly elucidated. Our report described a PG patient with a heterozygous splice-donor-site mutation in NFKB1 (c.730+5G>A) causing the absence of exon 8 and the formation of truncated p105 (p.Asp191_Lys244delinsGlu; p105delEx8), which led to distinct symptoms of high fever and excessive inflammation in wound area after routine surgical procedures. The functional analysis showed that the variant caused reduced phosphorylation of p105 and resulted in the decreased processing of p105 to p50. We conclude that the patient's symptoms were caused by dysregulation of the NF-kappa B signaling pathway.

引用

页数：6

共 23 条

[21] Thompson J.B., 2018, 2018 CIS ANN M IMM D
[22] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul
Allen, Hana Lango
Burns, Siobhan O.
Greene, Daniel
Jansen, Machiel H.
Staples, Emily
Stephens, Jonathan
Carss, Keren J.
Biasci, Daniele
Baxendale, Helen
Thomas, Moira
Chandra, Anita
Kiani-Alikhan, Sorena
Longhurst, Hilary J.
Seneviratne, Suranjith L.
Oksenhendler, Eric
Simeoni, Ilenia
de Bree, Godelieve J.
Tool, Anton T. J.
van Leeuwen, Ester M. M.
Ebberink, Eduard H. T. M.
Meijer, Alexander B.
Tuna, Salih
Whitehorn, Deborah
Brown, Matthew
Turro, Ernest
Thrasher, Adrian J.
Smith, Kenneth G. C.
Thaventhiran, James E.
Kuijpers, Taco W.
[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 142 (04) : 1285 - 1296
[23] Wilson CL, 2015, NAT COMMUN, V6, DOI [10.1038/ncomms7818, 10.1038/ncomms9901]

← 1 2 3 →