Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

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Transplant for NEMO: this and much, much more.Genetics of Osteopetrosis.

P2860

Q41882009-8C23EDE4-19FE-4E4E-804B-4D0257D56D66 Q50041731-F6BFB31C-B923-4033-A53E-C72A7F2013E7

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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Hematopoietic stem cell transp ...... orphic IKBKG / NEMO mutations.

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type

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Hematopoietic stem cell transp ...... orphic IKBKG / NEMO mutations.

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Hematopoietic stem cell transp ...... orphic IKBKG / NEMO mutations.

@en

P1476

Hematopoietic stem cell transp ...... pomorphic IKBKG/NEMO mutations

@en

P2093

Alfons Krol

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Andrea Jones

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Andrew R Gennery

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Anthony J Mancini

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Antonio Condino-Neto

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Beatriz Costa-Carvalho

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Benedicte Neven

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Capucine Picard

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Charline Miot

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Chihaya Imai

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P2860

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)

NF-kappaB controls the global pro-inflammatory response in endothelial cells: evidence for the regulation of a pro-atherogenic program

Solution structure of NEMO zinc finger and impact of an anhidrotic ectodermal dysplasia with immunodeficiency-related point mutation

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections.

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.

Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.

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1456-1467

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scholarly article

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10.1182/BLOOD-2017-03-771600

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English

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130

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2017-07-05T00:00:00Z

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28679735

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5609334

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

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P2860

P2860

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932