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

Agammaglobulinemia, BTK Clinical Trial

Status Not yet recruiting

Clinical Trial 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.

Clinical Trial Description

n/a

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Agammaglobulinemia
• Agammaglobulinemia, BTK

• NCT number: NCT02234791
• Study type: Observational [Patient Registry]
• Source: Shanghai Children's Medical Center
• Contact: xiafang chen
• Phone: 38626161
• Email: chxf_1984@hotmail.com
• Status: Not yet recruiting
• Phase: N/A
• Start date: September 2014