Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants (Q44875734)

7 December 2017

title

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants (English)

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7 December 2017

Silvia Danielian

1

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7 December 2017

Matias Oleastro

2

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7 December 2017

Maria Eva Rivas

3

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7 December 2017

Claudio Cantisano

4

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7 December 2017

Marta Zelazko

5

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7 December 2017

publication date

11 March 2007

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Journal of Clinical Immunology

7 December 2017

published in

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7 December 2017

volume

27

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7 December 2017

issue

4

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7 December 2017

page(s)

455-459

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https://scigraph.springernature.com/pub.10.1007/s10875-007-9089-8

7 December 2017

exact match

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cites work

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CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

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Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation

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The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

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Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome

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12 December 2020

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

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12 December 2020

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals

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12 December 2020

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

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12 December 2020

The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship

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12 December 2020

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome

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12 December 2020

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

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12 December 2020

Defects of class-switch recombination

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12 December 2020

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

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12 December 2020

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

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12 December 2020

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

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12 December 2020

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

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12 December 2020

DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL

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12 December 2020

Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment

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12 December 2020

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis

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12 December 2020

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome

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12 December 2020

10.1007/S10875-007-9089-8

Identifiers

DOI

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7 December 2017

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