Immunodeficiency associated with a nonsense mutation of IKBKB. (scientific article published on 14 September 2014)

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)

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Mutant CHUK and severe fetal encasement malformation

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IkappaB kinase signaling is essential for maintenance of mature B cells

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Crosstalk in NF-κB signaling pathways

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Q30872351

Recombinant interleukin 2 therapy in severe combined immunodeficiency disease

Q34287109

CHARGE syndrome: a review

Q34404983

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

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The IKKbeta subunit of IkappaB kinase (IKK) is essential for nuclear factor kappaB activation and prevention of apoptosis

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Aberrant IKKα and IKKβ cooperatively activate NF-κB and induce EGFR/AP1 signaling to promote survival and migration of head and neck cancer

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IκB kinase β is required for activation of NF-κB and AP-1 in CD3/CD28-stimulated primary CD4(+) T cells

Q39397096

Interleukin-2 treatment for persistent cryptococcal meningitis in a child with idiopathic CD4(+) T lymphocytopenia

Q40411980

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Q42247188

IKKalpha controls formation of the epidermis independently of NF-kappaB.

Q42502421

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

Q45345436

B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood.

Q51051104

Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.

Q51733159

Mature T cells depend on signaling through the IKK complex.

Q52005562

Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia

Q73349272

P433

issue

P304

page(s)

916-921

P577

publication date

2014-09-14

P1433

published in

Journal of Clinical Immunology

Q6294961

P1476

title

Immunodeficiency associated with a nonsense mutation of IKBKB.

P478

volume

Reverse relations

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