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

Topics Community

Article

[X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case].

Revista medica de Chile - 1 Mar 2003

Rodríguez Cristián, Carrión Flavio, Marinovic María Angélica, Chávez Eduardo, Preisler Jessica, Pooley Francisco, Futatani Takeshi, Ochs Hans D

Abstract excerpt

We report a 11 years old male diagnosed as a X-linked hyper-IgM syndrome that presented with recurrent infections and sclerosing cholangitis and later developed a gallbladder cancer. Immunological evaluation showed decreased levels of serum IgG and IgA with elevated levels of IgM. Study of CD40 ligand expression on mitogen activated peripheral blood mononuclear cells revealed total absence of this marker on T...

Topics

Adenocarcinoma
Adolescent
CD40 Ligand
Cholangitis, Sclerosing
Chromosomes, Human, X
Exons
Gallbladder Neoplasms
Humans
Hypergammaglobulinemia
Immunoglobulin M

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Immunologic Deficiency Syndromes

Male

Mutation

T-Lymphocytes

Source

Identifiers

PMID: 12790080

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case].PMID 12790080Read ↗

X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis.Semantic proximity Read ↗

X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patientsSemantic proximity Read ↗

Clinical features and genetic analysis of 20 Chinese 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 ↗

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

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

Clinical spectrum of X-linked hyper-IgM syndrome.Semantic proximity Read ↗

De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.Semantic proximity Read ↗

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

A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.Semantic proximity Read ↗

Hyper IgM syndrome: the other side of the coin.Semantic proximity Read ↗

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.Semantic proximity Read ↗

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