Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

ABSTRACT:

Background

There is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.

Methods

Data on XLA from all regional centers supported by the Foundation for Primary Immunodeficiency Diseases (FPID), USA and other institutions providing care to patients with PIDs were collated. Diagnosis of XLA was based on European Society for Immunodeficiencies (ESID) criteria.

Results

We received clinical details of 195 patients with a provisional diagnosis of XLA from 12 centers. At final analysis, 145 patients were included (137 'definite XLA' and eight 'probable/possible XLA'). Median age at onset of symptoms was 12.0 (6.0, 36.0) months and median age at diagnosis

SUBMITTER: Rawat A 

PROVIDER: S-EPMC7873890 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature