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

NCT ID: NCT02234791

Last Updated: 2014-09-09

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 100 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-09-30

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.

Conditions

Agammaglobulinemia, BTK

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

gene mutation

No interventions assigned to this group

Eligibility Criteria

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

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

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 18 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

Shanghai Children's Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Chen Tongxin

Director of Allergy and Immunology department, Shanghai Children's Medical Center

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Shanghai Children'S Medical Center

Shanghai, Shanghai Municipality, China

Countries

China

Central Contacts

xiafang chen

Role: CONTACT

chxf_1984@hotmail.com

38626161

Other Identifiers

BTK-20140828

Identifier Type: -

Identifier Source: org_study_id