A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
about
Mendelian genetics of human susceptibility to fungal infectionGermline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiencyPrimary immunodeficiencies underlying fungal infectionsGain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling.Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindInherited and acquired immunodeficiencies underlying tuberculosis in childhood.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.Host genetics of invasive Aspergillus and Candida infections.IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signalingAutoimmunity and Primary Immunodeficiency Disorders.30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology.Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.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.IkBA variant leads to EDA-IDTranscriptome of Porcine PBMCs over Two Generations Reveals Key Genes and Pathways Associated with Variable Antibody Responses post PRRSV Vaccination.IkBA variant is not phosphorylated within IkBA:NF-kappaBNuclear Factor-kappaB in Autoimmunity: Man and Mouse.From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.
P2860
Q27022250-21EE2A10-73DD-43AC-BDE1-101A46445D69Q28300499-91E9AE62-60CA-4662-AA1B-485BF85E9708Q33902831-6891AC51-D1BE-40BB-972F-45C6676C5E24Q34495699-2513C956-FB93-48F2-A418-209F2EDB5402Q35064876-78D3D780-6955-48A9-B9C9-7F7F9F84A003Q35190461-5379FCD4-B1DA-4F91-B878-CABA51798AF8Q35510477-2030A6F3-31DE-4975-B33A-DCA081A3FFA1Q38188634-291E1246-C302-4A73-9823-AB7D7AFCC2B3Q38195246-8B56DD9A-CB61-4D6E-A0D2-D1F887309CF2Q38268925-AC051FEC-B5A7-4E2C-8461-00F65950A778Q38272499-2015FD2C-5FCD-45E9-89F3-01ACBC1BA0A0Q38375236-7AB5F162-3040-4725-9174-276BAB29EDD4Q38841123-FE9C173F-CEB9-421D-8E3B-2F7C0CDBD7A2Q39086011-54532DA6-BB83-49BE-A611-570C49C68F3DQ39361295-F1A264EC-A530-47AE-9D8C-92159CC1CCB8Q40146597-34858596-AB62-43FB-88EA-B29196E7437AQ40166610-EC824AB8-9B76-483B-AE90-C75BFD7A3055Q45316720-A47C93E8-330A-4644-BB55-8A9E4C977A43Q49833829-8884D8DB-0B88-4784-8999-D7689C5C675EQ50289680-45569643-5DF7-4BBB-A076-04583785B56AQ52311688-1BC6953E-96A2-402C-A19F-D194DFA3DB97Q53061634-07BE60D1-099B-4C3A-BA64-D52A439E52F9
P2860
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@en
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@nl
type
label
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@en
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@nl
prefLabel
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@en
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@nl
P2093
P2860
P50
P1476
A novel gain-of-function IKBA ...... ciency and polyendocrinopathy.
@en
P2093
Bernd H Belohradsky
Birgit Kammer
Ellen D Renner
Gundula Notheis
Hans D Ochs
Hans-Peter Schwarz
Laura Kallmann
Lena F Schimke
Michael H Albert
Nikolaus Rieber
P2860
P2888
P304
P356
10.1007/S10875-013-9906-1
P577
2013-05-25T00:00:00Z
P6179
1005058496