Clinical Trial: Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational [Patient Registry]

Official Title:

Brief Summary:

X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk) are responsible for most of the gammaglobulinemia.

We tend to investigate the gene mutation and clinical features of Chinese X-linked agammaglobulinemia (XLA) patients, and also examined the relationship between specific Btk gene mutations and severity of clinical presentation.

Detailed Summary:
Sponsor: Shanghai Children's Medical Center

Current Primary Outcome: times of pneumonia [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Shanghai Children's Medical Center

Dates:
Date Received: August 29, 2014
Date Started: September 2014
Date Completion:
Last Updated: September 4, 2014
Last Verified: September 2014