Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Scandinavian journal of immunology - 1 Feb 2009

Rangel-Santos A, Wakim V L, Jacob C M, Pastorino A C, Cunha J M, Collanieri A C, Niemela J E, Grumach A S, Duarte A J S, Moraes-Vasconcelos D, Oliveira J B

Abstract excerpt

Type 1, X-linked Hyper-IgM syndrome (HIGM1) is caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG). CD40L is expressed in activated T cells and interacts with CD40 receptor expressed on B lymphocytes and dendritic cells. Affected patients present cellular and humoral immune defects, with infections by intracellular, opportunistic and extracellular pathogens. In the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to CD40 Ligand

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Hypergammaglobulinemia

Share to Immunoglobulin M

Share to Molecular Sequence Data

Share to Mutation

Share to T-Lymphocytes

Source

Identifiers

PMID: 19170966
DOI: 10.1111/j.1365-3083.2008.02198.x

Genes

TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.PMID 19170966Read ↗

X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report.Semantic proximity Read ↗

The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.Semantic proximity Read ↗

Identification of genetic sequence variations associated with the pathogenesis of X-linked hyper-IgM syndromeSemantic proximity Read ↗

X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.Semantic proximity Read ↗

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.Semantic proximity Read ↗

Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.Semantic proximity Read ↗

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.Semantic proximity Read ↗

Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients.Semantic proximity Read ↗

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.Semantic proximity Read ↗

The structural basis of hyper IgM deficiency - CD40L mutations.Semantic proximity Read ↗

X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype.Semantic proximity Read ↗

Molecular Diagnostic Challenges and Complex Management of Consecutive Twin Pregnancies in a Family with CD40 Ligand Deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.