A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.

Item
http://www.wikidata.org/entity/Q50335729
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.Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Primary antibody deficiencies.Pediatric allergy and immunology in Japan.Addressing diagnostic challenges in primary immunodeficiencies: laboratory evaluation of Toll-like receptor- and NF-κB-mediated immune responses.ICON: the early diagnosis of congenital immunodeficiencies.IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signalingHuman IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation.IkBA variant is not phosphorylated within IkBA:NF-kappaBMondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.
P2860

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.

Item
http://www.wikidata.org/entity/Q50335729
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
A rapid screening method to de ...... th immune deficiency syndrome.
@en
A rapid screening method to de ...... th immune deficiency syndrome.
@nl
type
label
A rapid screening method to de ...... th immune deficiency syndrome.
@en
A rapid screening method to de ...... th immune deficiency syndrome.
@nl
prefLabel
A rapid screening method to de ...... th immune deficiency syndrome.
@en
A rapid screening method to de ...... th immune deficiency syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
A rapid screening method to de ...... th immune deficiency syndrome.
@en
P2093
P304
P31
P356
10.1016/J.JACI.2011.09.042
P407
P433
P478
P577
P698