Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
about
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.Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells.ICON: the early diagnosis of congenital immunodeficiencies.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.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.Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations.
P2860
Q33409176-97E557E6-5F2C-4773-8EF0-8208CCE98C61Q36356747-63848916-2608-4E39-BE50-49C98199F192Q38195246-65BF3060-13DF-4DA4-8B4B-E4F699DA0501Q38565751-5653E6E4-62BE-4EA3-862E-5E6DB585D990Q40136850-9140BCDC-7ADB-427D-85EA-A03A1C22038DQ40146597-7BF208D8-6C77-40B0-A887-01B3CB21B51DQ40817291-7BE30B25-541C-432C-9BA9-9AD90FCB0061Q54334567-9DF1B5ED-6008-40BB-AD50-C496112F3C9D
P2860
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@en
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@nl
type
label
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@en
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@nl
prefLabel
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@en
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@nl
P2093
P1433
P1476
Frequent somatic mosaicism of ...... splasia with immunodeficiency.
@en
P2093
Atsushi Yoden
Chihaya Imai
Etsuro Ito
Hidemasa Sakai
Hiroshi Akutagawa
Hiroyuki Nunoi
Kazushi Izawa
Masao Kobayashi
Megumu Saito
Naoko Tanaka
P304
P356
10.1182/BLOOD-2011-05-354167
P407
P577
2012-04-19T00:00:00Z