Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
Q Riller, B Sorin, C Courteille, D Ho-Nhat, T Le Voyer… - medRxiv, 2024 - medrxiv.org
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK
complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal …
complex activating the canonical pathway alongside IKKβ. Absence of IKKα cause fetal …
IKK-related genetic diseases: probing NF-κB functions in humans and other matters
A Senegas, J Gautheron, AGD Maurin… - Cellular and Molecular …, 2015 - Springer
The transcription factor NF-κB plays a key role in numerous physiological processes such as
inflammation, immunity, cell proliferation or control of cell death. Its activation is tightly …
inflammation, immunity, cell proliferation or control of cell death. Its activation is tightly …
Noncanonical NF-κB signaling is limited by classical NF-κB activity
CM Gray, C Remouchamps, KA McCorkell, LA Solt… - Science …, 2014 - science.org
Precise regulation of nuclear factor κB (NF-κB) signaling is crucial for normal immune
responses, and defective NF-κB activity underlies a range of immunodeficiencies. NF-κB is …
responses, and defective NF-κB activity underlies a range of immunodeficiencies. NF-κB is …
[HTML][HTML] A novel homozygous mutation destabilizes IKKβ and leads to human combined immunodeficiency
T Qin, Y Jia, Y Liu, R Dai, L Zhou, S Okada… - Frontiers in …, 2021 - frontiersin.org
Mutations in the IKBKB gene cause severe immunodeficiency, characterized clinically by
persistent respiratory or gastrointestinal infections. Targeted gene panel sequencing …
persistent respiratory or gastrointestinal infections. Targeted gene panel sequencing …
IKKα takes control of canonical NF-κB activation
C Pelzer, M Thome - Nature Immunology, 2011 - nature.com
The kinase IKKα has a well-described activating role in the noncanonical transcription factor
NF-κB pathway. Evidence now suggests that IKKα also inhibits the canonical NF-κB pathway …
NF-κB pathway. Evidence now suggests that IKKα also inhibits the canonical NF-κB pathway …
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα)
Inhibitor of nuclear factor kappa B kinase alpha (IKKα) is critical for p100/NF-κB2
phosphorylation and processing into p52 and activation of the noncanonical NF-κB pathway …
phosphorylation and processing into p52 and activation of the noncanonical NF-κB pathway …
The zinc finger mutation C417R of I-κB kinase γ impairs lipopolysaccharide-and TNF-mediated NF-κB activation through inhibiting phosphorylation of the I-κB kinase β …
F Yang, J Yamashita, E Tang, H Wang… - The Journal of …, 2004 - journals.aai.org
The activation of the I-κB kinase (IKK) complex by TNF or LPS stimulates phosphorylation
and degradation of I-κBα, leading to the nuclear translocation of NF-κB. The IKK complex is …
and degradation of I-κBα, leading to the nuclear translocation of NF-κB. The IKK complex is …
[HTML][HTML] Tyrosine phosphorylation allows integration of multiple signaling inputs by IKKβ
AN Meyer, KA Drafahl, CW McAndrew, JE Gilda… - PloS one, 2013 - journals.plos.org
Signaling regulated by NFκB and related transcription factors is centrally important to many
inflammatory and autoimmune diseases, cancer, and stress responses. The kinase that …
inflammatory and autoimmune diseases, cancer, and stress responses. The kinase that …
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
F Fusco, A Pescatore, MI Conte, P Mirabelli… - International reviews …, 2015 - Taylor & Francis
Anhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the …
Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the …
Expanding the interactome of the noncanonical NF-κB signaling pathway
KL Willmann, R Sacco, R Martins… - Journal of proteome …, 2016 - ACS Publications
NF-κB signaling is a central pathway of immunity and integrates signal transduction upon a
wide array of inflammatory stimuli. Noncanonical NF-κB signaling is activated by a small …
wide array of inflammatory stimuli. Noncanonical NF-κB signaling is activated by a small …