1 |
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
57
6
|
Moriya K...Kanegane H
|
29948576 |
2018 |
2 |
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.
57
6
|
Staples E...Thaventhiran JED
|
28417298 |
2017 |
3 |
Anhidrotic ectodermal dysplasia: a new mutation.
6
57
|
Giancane G...Duse M
|
23870671 |
2013 |
4 |
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.
6
57
|
Yoshioka T...Heike T
|
23864385 |
2013 |
5 |
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
6
57
|
Schimke LF...Torgerson TR
|
23708964 |
2013 |
6 |
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
57
6
|
Lopez-Granados E...Jain A
|
18412279 |
2008 |
7 |
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
6
57
|
McDonald DR...Geha RS
|
17931563 |
2007 |
8 |
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.
6
57
|
Janssen R...Lankester A
|
15337789 |
2004 |
9 |
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
57
6
|
Courtois G...Casanova JL
|
14523047 |
2003 |
10 |
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
57
|
Boisson B...Casanova JL
|
28597146 |
2017 |
11 |
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
6
|
Lee AJ...Boisson-Dupuis S
|
26888281 |
2016 |
12 |
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA.
57
|
Lee AJ...Boisson-Dupuis S
|
26691317 |
2016 |
13 |
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.
57
|
Dupuis-Girod S...Casanova JL
|
16769798 |
2006 |
14 |
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.
61
|
Darbinyan A...Tsankova NM
|
27411570 |
2016 |
15 |
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
61
|
Giardino G...Pignata C
|
26307434 |
2015 |
16 |
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
61
|
Carlberg VM...Krol AL
|
23405946 |
2014 |
17 |
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
61
|
Roberts CM...Ravenscroft JC
|
20499091 |
2010 |
18 |
The zinc finger domain of IKKγ (NEMO) protein in health and disease.
61
|
Shifera AS
|
20345847 |
2010 |
19 |
Mutations in the zinc finger domain of IKK gamma block the activation of NF-kappa B and the induction of IL-2 in stimulated T lymphocytes.
61
|
Shifera AS...Horwitz MS
|
18207244 |
2008 |
20 |
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination.
61
|
Souto-Carneiro MM...Lipsky PE
|
18178844 |
2008 |
21 |
Preimplantation diagnosis for immunodeficiencies.
61
|
Verlinsky Y...Kuliev A
|
17298726 |
2007 |
22 |
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected].
61
|
Wu CJ...Ashwell JD
|
16547522 |
2006 |
23 |
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
61
|
Martinez-Pomar N...Matamoros N
|
16228229 |
2005 |
24 |
A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha.
61
|
Tang ED...Guan KL
|
12867425 |
2003 |
25 |
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.
61
|
Orange JS...Geha RS
|
12045264 |
2002 |
26 |
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
61
|
Kosaki K...Matsuo N
|
11484156 |
2001 |
27 |
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.
61
|
Mansour S...Murday VA
|
11241484 |
2001 |
28 |
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).
61
|
Zonana J...Ferguson BM
|
11047757 |
2000 |