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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02234791

Enrollment

100

Registered

2014-09-09

Start date

2014-09-30

Completion date

Unknown

Last updated

2014-09-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Agammaglobulinemia, BTK

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

1 Months to 18 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
times of pneumonia	2 years

Countries

China

Contacts

Primary Contactxiafang chen

chxf_1984@hotmail.com38626161

Outcome results