A Case of Bruton’s X-Linked Agamaglobulinemia Presenting with Recurrent Pneumonia | [Pakistan Paediatric Journal • 2019]

Author(s):

1. IZZA IMRAN: Department of Pediatric Medicine, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan

2. NABEELA MUSHTAQ: Department of Pediatric Medicine, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan

3. ATTIA BARI: Department of Pediatric Medicine, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan

4. Nadia Sadaqat: Department of Pediatric Medicine, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan

5. Nadia Nawaz: Department of Pediatric Medicine, The Children’s Hospital & The Institute of Child Health, Lahore, Pakistan

Abstract:

X-Linked Agamaglobulinemia (XLA) or Bruton`s disease is a subtype of primary humoral immunodeficiency. It is an uncommon disorder due to the defect of a gene encoding Bruton's tyrosine kinase (Btk). There is absent or low level of immunoglobulins and peripheral B lymphocytes, leading to repeated infections with encapsulated bacteria mainly in upper and lower respiratory tract. We reported a case of Bruton`s disease who presented at 9 month of age with failure to thrive and recurrent pneumonia since the age of 2 months with significant low levels of immunoglobulins, circulating B cells and extremely low CD19+ counts. We did not have the facility for genetic analysis of Btk gene mutation.

Page(s): 292-295

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 43, Issue: 4, Year: 2019

Keywords:

Immunodeficiency , Immunoglobulins , XLinked Agamaglobulinemia , Bruton`s tyrosine kinase

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