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

The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.

1 Aug 1994

Abstract excerpt

The molecular origin of X-linked hyper IgM syndrome has recently been identified as a defect in the ligand of CD40, gp39, a protein expressed on the surface of activated T cells. The availability of detailed pedigrees for three families with affected males allowed assessment of the random or nonrandom nature of the inactivation of the defective X chromosome as well as a determination of the origin of the...

Read the complete abstract on PubMed

Topics

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

Share to Glycosylation and Glycoproteins Research
Share to Monoclonal and Polyclonal Antibodies Research
Share to T-cell and B-cell Immunology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7518839
DOI: 10.1172/jci117377

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.PMID 7518839Read ↗

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 ↗

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

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

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

Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1).Semantic proximity Read ↗

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.Semantic proximity Read ↗

Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome.Semantic proximity Read ↗

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

[Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention].Semantic proximity Read ↗

Analysis of somatic hypermutation in X-linked hyper-IgM syndrome shows specific deficiencies in mutational targeting.Semantic proximity Read ↗

X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.Semantic proximity Read ↗

Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome.Semantic proximity Read ↗

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