A Case of X-Linked Agammaglobulinemia Presenting with Recurrent Pneumonia and Bronchiectasis
Journal Title: Vajira Medical Journal: Journal of Urban Medicine - Year 2020, Vol 64, Issue 5
Abstract
Recurrent infection especially recurrent sinopulmonary tract infection is a typical clinical condition for referral to pediatrician. Patients with recurrent pneumonia should be evaluated for underlying diseases including asthma, congenital heart diseases, gastroesophageal reflux, foreign body aspiration, structure anomalies, cystic fibrosis and immunodeficiency. Our one patient with recurrent pneumonia had hypoglobulinemia, low number of circulating B cell with deficiency of CD19 B cell, absence of tonsils and recurrent pneumonia requiring hospitalization. PCR and sequencing revealed mutation of Bruton tyrosine kinase (Btk) gene on Xq22, suggested that he had X-linked agammaglobulinemia (XLA). The appropriate treatment of XLA was good hygiene care, treatment of infection and prophylactic therapy with intravenous immunoglobulin. This report should alert the pediatrician and general practitioners to consider the diagnosis of primary immunodeficiency diseases. The early diagnosis and proper management can prevent comorbidity diseases and improve quality of patient’s life.
Authors and Affiliations
Sirasuda Sommanus
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