1 |
Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency.
62
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Aizawa Y...Saitoh A
|
35678949 |
2022 |
2 |
Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis.
62
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Jimi E...Katagiri T
|
35887342 |
2022 |
3 |
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
62
|
Surucu Yilmaz N...Gursel M
|
35028801 |
2022 |
4 |
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.
62
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Wen W...Zhao X
|
35005117 |
2022 |
5 |
An infant with X-linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report.
62
|
Toyohara M...Oka A
|
34815879 |
2021 |
6 |
EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.
62
|
Bret Puvilland C...Ouachee-Chardin M
|
33598805 |
2021 |
7 |
Inborn errors of immunity associated with characteristic phenotypes.
62
|
Bardou MLD...Grumach AS
|
33347837 |
2021 |
8 |
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles.
62
|
Inaba S...Saitoh A
|
35003103 |
2021 |
9 |
DISSEMINATED BACILLUS-CALMETTE-GUÉRIN INFECTIONS AND PRIMARY IMMUNODEFICIENCY DISORDERS IN SINGAPORE: A SINGLE CENTER 15-YEAR RETROSPECTIVE REVIEW.
62
|
Ong RYL...Tan NW
|
32497805 |
2020 |
10 |
TNF receptor signalling in autoinflammatory diseases.
62
|
Jarosz-Griffiths HH...McDermott MF
|
30838383 |
2019 |
11 |
Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency.
62
|
Ichimiya Y...Ohga S
|
30982207 |
2019 |
12 |
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
62
|
Boisson B...Yasumi T
|
30422821 |
2019 |
13 |
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations.
62
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Mitani Y...Yachie A
|
30146668 |
2018 |
14 |
ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
62
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Lian J...Feske S
|
29155098 |
2018 |
15 |
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
62
|
Petersheim D...Geha RS
|
28629746 |
2018 |
16 |
NEMO Links Nuclear Factor-κB to Human Diseases.
62
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Maubach G...Naumann M
|
29128367 |
2017 |
17 |
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
62
|
Frans G...Bossuyt X
|
28993958 |
2017 |
18 |
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
62
|
Ohnishi H...Fukao T
|
28702714 |
2017 |
19 |
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
62
|
Boisson B...Casanova JL
|
28597146 |
2017 |
20 |
OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH.
62
|
Ricci S...Azzari C
|
27838798 |
2017 |
21 |
Interferon-gamma reduces the proliferation of M. tuberculosis within macrophages from a patient with a novel hypomorphic NEMO mutation.
62
|
Khan TA...Condino-Neto A
|
27391872 |
2016 |
22 |
A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).
62
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Johnston AM...Kuehn H
|
27368913 |
2016 |
23 |
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.
62
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Darbinyan A...Tsankova NM
|
27411570 |
2016 |
24 |
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand.
62
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Giardino G...Pignata C
|
26307434 |
2015 |
25 |
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
62
|
Ramirez-Alejo N...Santos-Argumedo L
|
26117626 |
2015 |
26 |
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.
62
|
Fusco F...Ursini MV
|
26269396 |
2015 |
27 |
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.
62
|
Carlberg VM...Krol AL
|
23405946 |
2014 |
28 |
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
62
|
van Asbeck E...Morava E
|
24721901 |
2014 |
29 |
Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
62
|
Ngadjeua F...Agou F
|
24100029 |
2013 |
30 |
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.
62
|
Yoshioka T...Heike T
|
23864385 |
2013 |
31 |
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
62
|
Schimke LF...Torgerson TR
|
23708964 |
2013 |
32 |
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
62
|
Kawai T...Heike T
|
22635013 |
2012 |
33 |
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
62
|
Kawai T...Heike T
|
22517901 |
2012 |
34 |
Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
62
|
Mizukami T...Nunoi H
|
21993693 |
2012 |
35 |
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.
62
|
Bustamante J...Casanova JL
|
22236433 |
2011 |
36 |
New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein.
62
|
Hubeau M...Bustamante J
|
21622647 |
2011 |
37 |
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.
62
|
Picard C...Puel A
|
21734245 |
2011 |
38 |
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).
62
|
Roberts CM...Ravenscroft JC
|
20499091 |
2010 |
39 |
The zinc finger domain of IKKγ (NEMO) protein in health and disease.
62
|
Shifera AS
|
20345847 |
2010 |
40 |
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency.
62
|
Minakawa S...Sawamura D
|
19663838 |
2009 |
41 |
Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes.
62
|
Luengo-Blanco M...Condino-Neto A
|
18523147 |
2008 |
42 |
Crystal structure of a vFlip-IKKgamma complex: insights into viral activation of the IKK signalosome.
62
|
Bagneris C...Barrett T
|
18538660 |
2008 |
43 |
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
62
|
Fusco F...Ursini MV
|
18350553 |
2008 |
44 |
Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation.
62
|
Cordier F...Agou F
|
18313693 |
2008 |
45 |
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.
62
|
Shifera AS...Horwitz MS
|
18207244 |
2008 |
46 |
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.
62
|
Mancini AJ...Uzel G
|
18347290 |
2008 |
47 |
A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway.
62
|
Chang TT...Gilliam AC
|
18222329 |
2008 |
48 |
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination.
62
|
Souto-Carneiro MM...Lipsky PE
|
18178844 |
2008 |
49 |
Preimplantation diagnosis for immunodeficiencies.
62
|
Verlinsky Y...Kuliev A
|
17298726 |
2007 |
50 |
Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.
62
|
Fusco F...Ursini MV
|
16997509 |
2006 |