Concepedia

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation

Takakazu Yoshioka, Ryuta Nishikomori, Junichi Hara, Keiko Okada, Yoshiko Hashii, Ikuo Okafuji, Seishiro Nodomi, Tomoki Kawai, Kazushi Izawa, Hidenori Ohnishi,

Journal of Clinical Immunology · 2013 · 42 citations · 15 references

DOI

Concepts

References

15

Control of IκB-α Proteolysis by Site-Specific, Signal-Induced Phosphorylation

Keith Brown, Susan M. Gerstberger, Louise Carlson et al. · Science · 1995 · 1.4K citations

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Phosphorylation of human I kappa B-alpha on serines 32 and 36 controls I kappa B-alpha proteolysis and NF-kappa B activation in response to diverse stimuli.

E. Britta-Mareen Traenckner, Heike L. Pahl, Timothy P. Henkel et al. · The EMBO Journal · 1995 · 1K citations · Full text

, , +10

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling

Rainer Döffinger, Asma Smahi, Christine Bessia et al. · Nature Genetics · 2001 · 817 citations

, , +5

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics · 2000 · 521 citations · Full text

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Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

Ashish Jain, Chi Adrian, Shiyung Liu et al. · Nature Immunology · 2001 · 392 citations

, , +7