229 related articles for article (PubMed ID: 31965418)
1. T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S; Kölsch U; Magg T; Krüger R; Scheuern A; Schneider H; Eichinger A; Wahn V; Unterwalder N; Lorenz M; Schwarz K; Meisel C; Schulz A; Hauck F; von Bernuth H
J Clin Immunol; 2020 Apr; 40(3):421-434. PubMed ID: 31965418
[TBL] [Abstract][Full Text] [Related]
2. Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi H; Kishimoto Y; Taguchi T; Kawamoto N; Nakama M; Kawai T; Nakayama M; Ohara O; Orii K; Fukao T
J Clin Immunol; 2017 Aug; 37(6):529-538. PubMed ID: 28702714
[TBL] [Abstract][Full Text] [Related]
3. Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Ma CA; Wang HY; Temmerman S; Zhao Y; Wu L; Hornung RL; Wara D; Jain A
Hum Mutat; 2011 Mar; 32(3):318-24. PubMed ID: 21309033
[TBL] [Abstract][Full Text] [Related]
4. Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.
Karamchandani-Patel G; Hanson EP; Saltzman R; Kimball CE; Sorensen RU; Orange JS
Ann Allergy Asthma Immunol; 2011 Jul; 107(1):50-6. PubMed ID: 21704885
[TBL] [Abstract][Full Text] [Related]
5. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP; Monaco-Shawver L; Solt LA; Madge LA; Banerjee PP; May MJ; Orange JS
J Allergy Clin Immunol; 2008 Dec; 122(6):1169-1177.e16. PubMed ID: 18851874
[TBL] [Abstract][Full Text] [Related]
6. Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
Ngadjeua F; Chiaravalli J; Traincard F; Raynal B; Fontan E; Agou F
J Biol Chem; 2013 Nov; 288(47):33722-33737. PubMed ID: 24100029
[TBL] [Abstract][Full Text] [Related]
7. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF; Rieber N; Rylaarsdam S; Cabral-Marques O; Hubbard N; Puel A; Kallmann L; Sombke SA; Notheis G; Schwarz HP; Kammer B; Hökfelt T; Repp R; Picard C; Casanova JL; Belohradsky BH; Albert MH; Ochs HD; Renner ED; Torgerson TR
J Clin Immunol; 2013 Aug; 33(6):1088-99. PubMed ID: 23708964
[TBL] [Abstract][Full Text] [Related]
8. Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene.
Mooster JL; Cancrini C; Simonetti A; Rossi P; Di Matteo G; Romiti ML; Di Cesare S; Notarangelo L; Geha RS; McDonald DR
J Allergy Clin Immunol; 2010 Jul; 126(1):127-32.e7. PubMed ID: 20542322
[TBL] [Abstract][Full Text] [Related]
9. Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G; van der Werff Ten Bosch J; Moens L; Gijsbers R; Changi-Ashtiani M; Rokni-Zadeh H; Shahrooei M; Wuyts G; Meyts I; Bossuyt X
J Clin Immunol; 2017 Nov; 37(8):801-810. PubMed ID: 28993958
[TBL] [Abstract][Full Text] [Related]
10. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
Fusco F; Pescatore A; Conte MI; Mirabelli P; Paciolla M; Esposito E; Lioi MB; Ursini MV
Int Rev Immunol; 2015; 34(6):445-59. PubMed ID: 26269396
[TBL] [Abstract][Full Text] [Related]
11. Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation.
Cordier F; Vinolo E; Véron M; Delepierre M; Agou F
J Mol Biol; 2008 Apr; 377(5):1419-32. PubMed ID: 18313693
[TBL] [Abstract][Full Text] [Related]
12. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.
Bal E; Laplantine E; Hamel Y; Dubosclard V; Boisson B; Pescatore A; Picard C; Hadj-Rabia S; Royer G; Steffann J; Bonnefont JP; Ursini VM; Vabres P; Munnich A; Casanova JL; Bodemer C; Weil R; Agou F; Smahi A
J Allergy Clin Immunol; 2017 Dec; 140(6):1671-1682.e2. PubMed ID: 28249776
[TBL] [Abstract][Full Text] [Related]
13. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T; Nishikomori R; Izawa K; Murata Y; Tanaka N; Sakai H; Saito M; Yasumi T; Takaoka Y; Nakahata T; Mizukami T; Nunoi H; Kiyohara Y; Yoden A; Murata T; Sasaki S; Ito E; Akutagawa H; Kawai T; Imai C; Okada S; Kobayashi M; Heike T
Blood; 2012 Jun; 119(23):5458-66. PubMed ID: 22517901
[TBL] [Abstract][Full Text] [Related]
14. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.
Ørstavik KH; Kristiansen M; Knudsen GP; Storhaug K; Vege A; Eiklid K; Abrahamsen TG; Smahi A; Steen-Johnsen J
Am J Med Genet A; 2006 Jan; 140(1):31-9. PubMed ID: 16333836
[TBL] [Abstract][Full Text] [Related]
15. IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
Salt BH; Niemela JE; Pandey R; Hanson EP; Deering RP; Quinones R; Jain A; Orange JS; Gelfand EW
J Allergy Clin Immunol; 2008 Apr; 121(4):976-82. PubMed ID: 18179816
[TBL] [Abstract][Full Text] [Related]
16. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation.
Orange JS; Jain A; Ballas ZK; Schneider LC; Geha RS; Bonilla FA
J Allergy Clin Immunol; 2004 Apr; 113(4):725-33. PubMed ID: 15100680
[TBL] [Abstract][Full Text] [Related]
17. Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation.
Pachlopnik Schmid JM; Junge SA; Hossle JP; Schneider EM; Roosnek E; Seger RA; Gungor T
Pediatrics; 2006 May; 117(5):e1049-56. PubMed ID: 16636116
[TBL] [Abstract][Full Text] [Related]
18. A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation.
Vinolo E; Sebban H; Chaffotte A; Israël A; Courtois G; Véron M; Agou F
J Biol Chem; 2006 Mar; 281(10):6334-48. PubMed ID: 16379012
[TBL] [Abstract][Full Text] [Related]
19. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G; Smahi A; Reichenbach J; Döffinger R; Cancrini C; Bonnet M; Puel A; Chable-Bessia C; Yamaoka S; Feinberg J; Dupuis-Girod S; Bodemer C; Livadiotti S; Novelli F; Rossi P; Fischer A; Israël A; Munnich A; Le Deist F; Casanova JL
J Clin Invest; 2003 Oct; 112(7):1108-15. PubMed ID: 14523047
[TBL] [Abstract][Full Text] [Related]
20. Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype.
Lee Y; Wessel AW; Xu J; Reinke JG; Lee E; Kim SM; Hsu AP; Zilberman-Rudenko J; Cao S; Enos C; Brooks SR; Deng Z; Lin B; de Jesus AA; Hupalo DN; Piotto DG; Terreri MT; Dimitriades VR; Dalgard CL; Holland SM; Goldbach-Mansky R; Siegel RM; Hanson EP
J Clin Invest; 2022 Mar; 132(6):. PubMed ID: 35289316
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
