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

Shanghai Jiao Tong University

Status: Unknown

Conditions: Agammaglobulinemia, BTK

Study type: Observational

Funder types: Other

Identifiers

NCT02234791

BTK-20140828

Details and patient eligibility

About

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.

Enrollment: 100 estimated patients

Sex: Male

Ages: 1 month to 18 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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 for all groups:

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

Trial design

100 participants in 1 patient group

gene mutation