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

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

Asian Pacific journal of allergy and immunology - 1 Mar 2005

Ma Yi-Chun, Lee Wen-I, Shyur Shyh-Dar, Lin Sheng-Chieh, Huang Li-Hsin, Wu Jiunn-Yi

Abstract excerpt

X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder caused by mutations of the gene encoding the CD40 ligand (CD40L). It is characterized by recurrent infections with markedly decreased serum IgG, IgA and IgE levels but normal or elevated IgM levels. We report the clinical manifestations and complete immune studies in the first family with molecularly proven XHIM in Taiwan. A...

Read the complete abstract on PubMed

Topics

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

Share to CD40 Ligand
Share to Genetic Diseases, X-Linked

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

Share to Hypergammaglobulinemia

Share to Immunoglobulin M

Share to Infant

Share to Killer Cells, Natural

Share to Pneumonia

Share to Taiwan

Source

Identifiers

PMID: 15997875

Genes

TNF

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

De novo mutation causing X-linked hyper-IgM syndrome: a family study in Taiwan.PMID 15997875Read ↗

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

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.Semantic proximity Read ↗

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

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

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

X-linked hyper-IgM syndrome associated with pulmonary manifestations: A very rare case of functional mutation in CD40L gene in Iran.Semantic proximity Read ↗

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.Semantic proximity Read ↗

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.Semantic proximity Read ↗

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

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with Pulmonary Alveolar Proteinosis: A Case ReportSemantic proximity Read ↗

Type І hyper IgM syndrome with novel mutation from India.Semantic proximity Read ↗

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

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