Case Report and Literature Review of Adult-Diagnosed XLA with Arthritis

A single clinical case report describes an atypical presentation of X-linked agammaglobulinemia (XLA) diagnosed in adulthood with arthritis. The report includes detailed immunological, genetic, and functional analyses of a patient with a hypomorphic BTK splice-site variant. The document was authored by Asuka Takayama and published on figshare in May 2026.

Use Cases

• Review atypical clinical phenotypes of XLA based on the detailed case description
• Analyze genotype-phenotype correlations for hypomorphic BTK variants based on the genetic and functional data
• Study the intersection of rheumatologic and immunological diseases based on the patient's presentation with arthritis
• Evaluate the impact of immunoglobulin replacement therapy on rheumatologic manifestations based on the reported treatment outcomes

Strengths

• Includes detailed functional analyses demonstrating abnormal splicing and residual protein expression
• Provides a comprehensive literature review alongside the original case report
• Document is licensed under CC-BY-4.0 for open sharing and reuse

Limitations

• Dataset is a single case report document (11.9 KB), representing a very limited scope
• Row count and column-level documentation are absent; data structure is unknown
• Freshness should be verified as the last update date is projected for 2026

Provenance

Source

figshare

Collection Method

Clinical case study and literature review

Freshness

Last updated 2026-05-21 05:42:37