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

HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.

Immunogenetics - 1 Jan 2007

Apoil P A, Kuhlein E, Robert A, Rubie H, Blancher A

Abstract excerpt

A new mutation of the CD40LG gene that encodes the CD40 ligand molecule was characterized in a young patient harboring a hyper-IgM with immunodeficiency syndrome. Inactivation of CD40LG gene resulted from the insertion of an AluYb8 element in exon 1 responsible for a total deficiency of CD40 ligand expression by T lymphocytes. Maternal transmission of the X-linked mutation was confirmed by gene-specific...

Read the complete abstract on PubMed

Topics

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

Share to Alu Elements
Share to Base Sequence
Share to CD40 Ligand

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to Genetic Diseases, X-Linked

Share to Infant

Share to Mutagenesis, Insertional

Source

Identifiers

PMID: 17146684
DOI: 10.1007/s00251-006-0175-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene.PMID 17146684Read ↗

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

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 ↗

Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.Semantic proximity Read ↗

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

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

Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.Semantic proximity Read ↗

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

Mutations of CD40 ligand in two patients with hyper-IgM syndrome.Semantic proximity Read ↗

CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.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 ↗

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

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