189 related articles for article (PubMed ID: 24682681)
1. Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO).
Haverkamp MH; Marciano BE; Frucht DM; Jain A; van de Vosse E; Holland SM
J Clin Immunol; 2014 May; 34(4):436-43. PubMed ID: 24682681
[TBL] [Abstract][Full Text] [Related]
2. Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency.
Temmerman ST; Ma CA; Zhao Y; Keenan J; Aksentijevich I; Fessler M; Brown MR; Knutsen A; Shapiro R; Jain A
J Clin Invest; 2012 Jan; 122(1):315-26. PubMed ID: 22156202
[TBL] [Abstract][Full Text] [Related]
3. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D; Massaad MJ; Lee S; Scarselli A; Cancrini C; Moriya K; Sasahara Y; Lankester AC; Dorsey M; Di Giovanni D; Bezrodnik L; Ohnishi H; Nishikomori R; Tanita K; Kanegane H; Morio T; Gelfand EW; Jain A; Secord E; Picard C; Casanova JL; Albert MH; Torgerson TR; Geha RS
J Allergy Clin Immunol; 2018 Mar; 141(3):1060-1073.e3. PubMed ID: 28629746
[TBL] [Abstract][Full Text] [Related]
4. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R; Smahi A; Bessia C; Geissmann F; Feinberg J; Durandy A; Bodemer C; Kenwrick S; Dupuis-Girod S; Blanche S; Wood P; Rabia SH; Headon DJ; Overbeek PA; Le Deist F; Holland SM; Belani K; Kumararatne DS; Fischer A; Shapiro R; Conley ME; Reimund E; Kalhoff H; Abinun M; Munnich A; Israël A; Courtois G; Casanova JL
Nat Genet; 2001 Mar; 27(3):277-85. PubMed ID: 11242109
[TBL] [Abstract][Full Text] [Related]
5. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
Hubeau M; Ngadjeua F; Puel A; Israel L; Feinberg J; Chrabieh M; Belani K; Bodemer C; Fabre I; Plebani A; Boisson-Dupuis S; Picard C; Fischer A; Israel A; Abel L; Veron M; Casanova JL; Agou F; Bustamante J
Blood; 2011 Jul; 118(4):926-35. PubMed ID: 21622647
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Interferon-gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation.
Khan TA; Schimke LF; Amaral EP; Ishfaq M; Barbosa Bonfim CC; Rahman H; Iqbal A; D'Império Lima MR; Costa Carvalho BT; Cabral-Marques O; Condino-Neto A
Pediatr Blood Cancer; 2016 Oct; 63(10):1863-6. PubMed ID: 27391872
[TBL] [Abstract][Full Text] [Related]
9. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.
Orange JS; Levy O; Brodeur SR; Krzewski K; Roy RM; Niemela JE; Fleisher TA; Bonilla FA; Geha RS
J Allergy Clin Immunol; 2004 Sep; 114(3):650-6. PubMed ID: 15356572
[TBL] [Abstract][Full Text] [Related]
10. Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia.
Niehues T; Reichenbach J; Neubert J; Gudowius S; Puel A; Horneff G; Lainka E; Dirksen U; Schroten H; Döffinger R; Casanova JL; Wahn V
J Allergy Clin Immunol; 2004 Dec; 114(6):1456-62. PubMed ID: 15577852
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T; Nishikomori R; Heike T
Allergol Int; 2012 Jun; 61(2):207-17. PubMed ID: 22635013
[TBL] [Abstract][Full Text] [Related]
12. Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
Ramírez-Alejo N; Alcántara-Montiel JC; Yamazaki-Nakashimada M; Duran-McKinster C; Valenzuela-León P; Rivas-Larrauri F; Cedillo-Barrón L; Hernández-Rivas R; Santos-Argumedo L
Clin Immunol; 2015 Oct; 160(2):163-71. PubMed ID: 26117626
[TBL] [Abstract][Full Text] [Related]
13. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
Nishikomori R; Akutagawa H; Maruyama K; Nakata-Hizume M; Ohmori K; Mizuno K; Yachie A; Yasumi T; Kusunoki T; Heike T; Nakahata T
Blood; 2004 Jun; 103(12):4565-72. PubMed ID: 14726382
[TBL] [Abstract][Full Text] [Related]
14. Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.
Karakawa S; Okada S; Tsumura M; Mizoguchi Y; Ohno N; Yasunaga S; Ohtsubo M; Kawai T; Nishikomori R; Sakaguchi T; Takihara Y; Kobayashi M
J Clin Immunol; 2011 Oct; 31(5):762-72. PubMed ID: 21720903
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Inherited disorders of NF-kappaB-mediated immunity in man.
Puel A; Picard C; Ku CL; Smahi A; Casanova JL
Curr Opin Immunol; 2004 Feb; 16(1):34-41. PubMed ID: 14734108
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
