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

[Gene diagnosis of X-linked agammaglobulinemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2005

Wang Xiao-chuan, Wang Ying, Kanegane Hirokazu, Toshio Miyawaki, Yu Ye-heng

Abstract excerpt

OBJECTIVE: X-linked agammaglobulinemia (XLA) is the most common disorder among primary immunodeficiency diseases, which is caused by mutations in the cytoplasmic Bruton's tyrosine kinase (BTK) gene, characterized by lack of mature, circulating B lymphocytes, hypogammaglobulinemia, and recurrent b...

Read the complete abstract on PubMed

Topics

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

Share to Protein-Tyrosine Kinases
Share to Agammaglobulinaemia Tyrosine Kinase
Share to Agammaglobulinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to DNA, Complementary

Share to Genetic Diseases, X-Linked

Share to Mutation, Missense

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 16053733

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16053733-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Gene diagnosis of X-linked agammaglobulinemia].PMID 16053733Read ↗

[Detection of Bruton's tyrosine kinase gene mutations and clinical analysis of 6 patients with X-linked agammaglobulinemia].Semantic proximity Read ↗

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).Semantic proximity Read ↗

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.Semantic proximity Read ↗

[Clinical features of X-linked agammaglobulinemia: analysis of 8 cases].Semantic proximity Read ↗

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.Semantic proximity Read ↗

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations.Semantic proximity Read ↗

Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.Semantic proximity Read ↗

[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].Semantic proximity Read ↗

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.Semantic proximity Read ↗

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Semantic proximity Read ↗

Biology and novel treatment options for XLA, the most common monogenetic immunodeficiency in manSemantic proximity Read ↗

[Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation].Semantic proximity Read ↗

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