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


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

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2016

Arms, Groups and Cohorts

  • gene mutation

Clinical Trial Outcome Measures

Primary Measures

  • times of pneumonia
    • Time Frame: 2 years

Participating in This Clinical Trial

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

Gender Eligibility: Male

Minimum Age: 1 Month

Maximum Age: 18 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Shanghai Children’s Medical Center
  • Provider of Information About this Clinical Study
    • Principal Investigator: Chen Tongxin, Director of Allergy and Immunology department, Shanghai Children’s Medical Center – Shanghai Children’s Medical Center
  • Overall Contact(s)
    • xiafang chen, 38626161,

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