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

• Conditions: Agammaglobulinemia, BTK

• Registration Number: NCT02234791
• Lead Sponsor: Shanghai Children's Medical Center

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 Description

Not available

Study Timeline

• Study First Submitted: 2014-08-29
• Status Verified: 2014-09
• Study Start: 2014-09
• Study First Submitted QC: 2014-09-04
• Last Update Submitted: 2014-09-04
• Study First Posted: 2014-09-09
• Last Update Posted: 2014-09-09
• Primary Completion: 2016-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Male
• Target Recruitment: 100

Inclusion Criteria

• Clinical diagnosis of XLA A.male patients with less than 2% CD19-positive B cells; B.recurrent bacterial infection; C.decreased or absent immunoglobulins in serum

Exclusion Criteria for all groups:

• Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for XLA

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
times of pneumonia	2 years

Trial Locations

Locations (1)

Shanghai Children'S Medical Center; 🇨🇳 Shanghai, Shanghai, China