Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Niehues, Tim; Reichenbach, Janine; Neubert, Jennifer; Gudowius, Sonja; Puel, Anne; Horneff, Gerd; Lainka, Elke; Dirksen, Uta; Schroten, Horst; Döffinger, Rainer; Casanova, Jean‐Laurent; Wahn, V.

doi:10.1016/j.jaci.2004.08.047

Cited by 118 publications

(90 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…EDA were also shown to carry NEMO mutations (Tobin et al 2003;Niehues et al, 2004;Orange et al, 2004;Filipe-Santos et al, 2006;Puel et al, 2006) ( Figure 1). All affected patients suffered from recurrent infections, often Mycobacteria-related.…”

Section: L227pmentioning

confidence: 97%

Mutations in the NF-κB signaling pathway: implications for human disease

2006

View full text Add to dashboard Cite

Section: L227pmentioning

confidence: 97%

Mutations in the NF-κB signaling pathway: implications for human disease

2006

View full text Add to dashboard Cite

“…4,6 Although this patient did not have ectodermal dysplasia, the absence of ectodermal dysplasia is an increasingly common feature of patients identified as having particular NEMO mutations. 5,14 The NEMO gene was sequenced first using primers against individual exons from genomic DNA and then from cDNA prepared from PBMCs. Both tests were performed because of the presence of a NEMO pseudogene that can contain an alteration and interfere with the genomic analyses of the transcribed NEMO exons.…”

Section: Identification Of a Novel Nemo Mutationmentioning

confidence: 99%

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

Salt

Niemela

Pandey

et al. 2008

Journal of Allergy and Clinical Immunology

View full text Add to dashboard Cite

show abstract

“…The identified NEMO mutation in this case may result in synthesis of a protein lacking the first 37 amino acids. 59 How such defect may impact upon NEMO function is not known.…”

Section: Immunodeficiencies Without Edamentioning

confidence: 99%

NF-κB-related genetic diseases

Courtois

Smahi

2006

Cell Death Differ

View full text Add to dashboard Cite

The recent identification of genetic diseases (incontinentia pigmenti, anhidrotic ectodermal dysplasia with immunodeficiency and cylindromatosis) resulting from mutations affecting components of the nuclear factor-jB (NF-jB) signaling pathway provides a unique opportunity to understand the function of NF-jB in vivo. Besides confirming the importance of NF-jB in innate and acquired immunity or bone mass control, analysis of these diseases has uncovered new critical roles played by this transcription factor in the development and homeostasis of the epidermis and the proper function of lymphatic vessels. In addition, the identified mutations will help understanding at the molecular level how NF-jB is activated in response to cell stimulation.

show abstract

Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Cited by 118 publications

References 27 publications

Mutations in the NF-κB signaling pathway: implications for human disease

Mutations in the NF-κB signaling pathway: implications for human disease

IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

NF-κB-related genetic diseases

Contact Info

Product

Resources

About