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Items: 17

1.

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.

PMID:
15100680
2.

The range of defects associated with nuclear factor kappaB essential modulator.

Uzel G.

Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):513-8. Review.

PMID:
16264331
3.

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.

4.

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. Review.

PMID:
26269396
5.

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
6.

Inherited disorders of human Toll-like receptor signaling: immunological implications.

Ku CL, Yang K, Bustamante J, Puel A, von Bernuth H, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL.

Immunol Rev. 2005 Feb;203:10-20. Review.

PMID:
15661018
7.

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.

Permaul P, Narla A, Hornick JL, Pai SY.

Immunol Res. 2009;44(1-3):89-98. doi: 10.1007/s12026-008-8085-2. Review.

PMID:
19225723
8.

Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).

Lee WI, Huang JL, Yeh KW, Jaing TH, Lin TY, Huang YC, Chiu CH.

J Formos Med Assoc. 2011 Dec;110(12):750-8. doi: 10.1016/j.jfma.2011.11.004. Review.

9.

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
10.

Heritable defects of the human TLR signalling pathways.

Puel A, Yang K, Ku CL, von Bernuth H, Bustamante J, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL.

J Endotoxin Res. 2005;11(4):220-4. Review.

PMID:
16176658
11.

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Bustamante J, Picard C, Boisson-Dupuis S, Abel L, Casanova JL.

Ann N Y Acad Sci. 2011 Dec;1246:92-101. doi: 10.1111/j.1749-6632.2011.06273.x. Review.

12.

Pulmonary complications of primary immunodeficiencies.

Buckley RH.

Paediatr Respir Rev. 2004;5 Suppl A:S225-33. Review.

PMID:
14980276
13.

[Primary immunodeficiencies. Clinical features and variant forms].

Fontán Casariego G.

Allergol Immunopathol (Madr). 2001 May-Jun;29(3):101-7. Review. Spanish.

PMID:
11434882
14.

[Cytokines in children with immunodeficiencies].

Kowalczyk D.

Folia Med Cracov. 1999;40(1-2):5-97. Review. Polish.

PMID:
10909468
15.

NF-kappa B defects in humans: the NEMO/incontinentia pigmenti connection.

Courtois G, Israël A.

Sci STKE. 2000 Nov 14;2000(58):pe1. Review.

PMID:
11752619
16.

Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.

Paciolla M, Pescatore A, Conte MI, Esposito E, Incoronato M, Lioi MB, Fusco F, Ursini MV.

Genes Immun. 2015 Jun;16(4):239-46. doi: 10.1038/gene.2015.3. Review.

17.

Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.

Arjunaraja S, Snow AL.

Curr Opin Allergy Clin Immunol. 2015 Dec;15(6):533-8. doi: 10.1097/ACI.0000000000000217. Review.

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