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Items: 1 to 20 of 110

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. doi: 10.1007/s10875-014-9998-2. Epub 2014 Feb 28.

PMID:
24682681
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. doi: 10.1172/JCI42534. Epub 2011 Dec 12.

3.

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.

PMID:
11242109
4.

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 28;118(4):926-35. doi: 10.1182/blood-2010-10-315234. Epub 2011 May 26.

6.

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. doi: 10.1002/pbc.26098. Epub 2016 Jul 8.

PMID:
27391872
7.

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.

PMID:
15356572
8.

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.

Kawai T, Nishikomori R, Heike T.

Allergol Int. 2012 Jun;61(2):207-17. doi: 10.2332/allergolint.12-RAI-0446. Review.

9.

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 15;103(12):4565-72. Epub 2004 Jan 15.

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.

PMID:
15577852
11.

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. Epub 2006 Apr 24.

PMID:
16636116
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. doi: 10.1016/j.clim.2015.06.007. Epub 2015 Jun 24.

PMID:
26117626
13.

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. doi: 10.3109/08830185.2015.1055331. Epub 2015 Aug 13. Review.

PMID:
26269396
14.

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 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19.

15.

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. Review.

PMID:
14734108
16.

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.

17.

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A.

Hum Mol Genet. 2002 Oct 1;11(20):2371-5. Review.

PMID:
12351572
18.

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. doi: 10.1007/s10875-011-9560-4. Epub 2011 Jul 1.

PMID:
21720903
19.

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. doi: 10.1016/j.anai.2011.03.009. Epub 2011 May 4.

20.

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. doi: 10.1016/j.jaci.2010.04.026. Epub 2010 Jun 12.

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