title: X-linked agammaglobulinemia in northern Thailand.
abstract: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand. mtrakult@mail.med.cmu.ac.th
authors.forename: Muthita
authors.initials: M
authors.lastname: Trakultivakorn
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D017668:Age of Onset; D001168:Arthritis / Q000150:complications; D001424:Bacterial Infections / Q000150:complications; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D008297:Male; D010033:Otitis Media / Q000150:complications; D010375:Pedigree; D011014:Pneumonia / Q000150:complications; D013785:Thailand
chemical_list: D016756:Immunoglobulins, Intravenous