Comèl-Netherton syndrome defined as primary immunodeficiency (Q34997608)

5 August 2017

title

Comèl-Netherton syndrome defined as primary immunodeficiency (English)

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5 August 2017

12

Jordan S Orange

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5 August 2017

13

Hans D Ochs

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5 August 2017

8

E Richard Stiehm

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5 August 2017

11

Troy R Torgerson

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5 August 2017

3

Stacey Rylaarsdam

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5 August 2017

5

Linda Monaco-Shawver

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5 August 2017

9

Bernd H Belohradsky

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5 August 2017

Ellen D Renner

1

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5 August 2017

Dominik Hartl

2

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5 August 2017

Marguerite L Young

4

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5 August 2017

Gary Kleiner

6

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5 August 2017

M Louise Markert

7

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5 August 2017

Melissa P Upton

10

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5 August 2017

language of work or name

English

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publication date

14 August 2009

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The Journal of Allergy and Clinical Immunology

5 August 2017

published in

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5 August 2017

volume

124

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5 August 2017

issue

3

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5 August 2017

page(s)

536-543

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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

5 August 2017

cites work

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CD56bright human NK cells differentiate into CD56dim cells: role of contact with peripheral fibroblasts

8 July 2018

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Efficacy of various intravenous immunoglobulin therapy protocols in autoimmune and chronic inflammatory disorders

8 July 2018

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A subpopulation of human peripheral blood NK cells that lacks inhibitory receptors for self-MHC is developmentally immature

8 July 2018

1 reference

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Human natural killer cell deficiencies

8 July 2018

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New perspectives on epidermal barrier dysfunction in atopic dermatitis: gene-environment interactions.

8 July 2018

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Interleukin-21 enhances NK cell activation in response to antibody-coated targets

8 July 2018

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Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome

8 July 2018

1 reference

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Primary cutaneous CD30+ T-cell lymphoproliferative disorder following cardiac transplantation in a 15-year-old boy with Netherton's syndrome

8 July 2018

1 reference

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Consequences of C-terminal domains and N-terminal signal peptide deletions on LEKTI secretion, stability, and subcellular distribution

8 July 2018

1 reference

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SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

8 July 2018

1 reference

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Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire

8 July 2018

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A unique case of trichorrhexis nodosa; bamboo hairs

8 July 2018

1 reference

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Human immunoglobulin M memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen

8 July 2018

1 reference

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Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses

8 July 2018

1 reference

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LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance

8 July 2018

1 reference

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

8 July 2018

1 reference

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Syndromes associated with immunodeficiency

8 July 2018

1 reference

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685174

Comèl-Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16.

8 July 2018

1 reference

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Chemokines--chemotactic cytokines that mediate inflammation

8 July 2018

1 reference

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Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings

8 July 2018

1 reference

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Immunologic responses to bacteriophage ϕX 174 in immunodeficiency diseases

8 July 2018

1 reference

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Netherton's syndrome. Report of a case and review of the literature

8 July 2018

1 reference

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Effect of high doses of intravenously administered immune globulin on natural killer cell activity in peripheral blood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3685174

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

8 July 2018

1 reference

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Highly active antiretroviral therapy restores CD4+ Vbeta T-cell repertoire in patients with primary acute HIV infection but not in treatment-naive HIV+ patients with severe chronic infection

26 October 2018

1 reference

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Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

26 October 2018

1 reference

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Absence of memory B cells in patients with common variable immunodeficiency

26 October 2018

1 reference

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Two subsets of naive T helper cells with distinct T cell receptor excision circle content in human adult peripheral blood

26 October 2018

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Ichthyosiform erythroderma and cardiomyopathy: report of two cases and review of the literature

26 October 2018

1 reference

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Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

26 October 2018

1 reference

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26 October 2018

1 reference

12 December 2020

NETHERTON'S DISEASE; TRICHORRHEXIS INVAGINATA (BAMBOO HAIR), CONGENITAL ICHTHYOSIFORM ERYTHRODERMA AND THE ATOPIC DIATHESIS. A HISTOPATHOLOGIC STUDY

1 reference

12 December 2020

The Wiskott-Aldrich syndrome

1 reference

12 December 2020

1 reference

12 December 2020

Clinico-immunological heterogeneity in Comèl-Netherton syndrome

1 reference

12 December 2020

Early development of multiple epithelial neoplasms in Netherton syndrome

1 reference

12 December 2020

The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets

1 reference

12 December 2020

Neonatal hypernatraemia in two siblings with Netherton's syndrome

1 reference

12 December 2020

Regulation of antibody responses: the role of complement and adhesion molecules

1 reference

12 December 2020

A clinical and immunological study of Netherton's syndrome

1 reference

12 December 2020

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome

1 reference

12 December 2020

Netherton's syndrome: a severe neonatal disease. A case report

1 reference

12 December 2020

Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia

1 reference

12 December 2020

Selective antibody deficiency to bacterial polysaccharide antigens in patients with Netherton syndrome

1 reference

12 December 2020

10.1016/J.JACI.2009.06.009

Identifiers

DOI

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5 August 2017

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5 August 2017

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