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

Shanghai Children's Medical Center100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Agammaglobulinemia, BTK

Eligibility

Sex: MALEMin age: 1 MonthMax age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Shanghai Children'S Medical Center

Shanghai, Shanghai Municipality, China

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

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts