OBJECTIVETo investigate clinical features of X-linked agammaglobulinemia (XLA) in children.

METHODSThe medical records of 17 children with XLA between January 2001 and April 2007 were reviewed.

RESULTSThe age at first diagnosis in 88.2% of patients was more than 6 years, with a mean of 7.7 years. Twelve patients (70.6%) presented first symptoms over 2 years old, with a mean of 4.2 years. Respiratory infections as first symptoms and complaints occurred in 64.7% of the patients and 35.3% of the patients presented with polyarthritis. Skin and soft tissue infections were rarely seen in less than 1 year old group children. Abrupt sepsis and abscess in deep tissues were seen in the older children. CD4+ T cells decreased and CD8+ T cells increased in 9 patients and an inversed ratio of CD4+/ CD8+ was observed in 11 patients.

CONCLUSIONSBoth the age presenting first symptoms and the age at first diagnosis in children with XLA in this study were later than the reported data. Respiratory infection was the most common manifestation. High prevalence of polyarthritis was observed. Abnormal T cell phenotypes occurred in more than one half of patients.

Agammaglobulinemia ; complications ; diagnosis ; immunology ; Child ; Child, Preschool ; Genetic Diseases, X-Linked ; complications ; diagnosis ; immunology ; Humans ; Male

Transient hypogammaglobulinemia of infancy (THI) is originally defined as a physiological maturation defect of immunoglobulin G (IgG) production that occurs at 3-6 months of age and lasts until 18 to 36 months of age. We report here on a 22-month-old child with THI and IgA deficiency, who had massive pneumococcal empyema. Her depressed IgG level returned to normal within 6 months, but IgA level was still low at 6 yr of age. Although THI is an age-dependent and self-limiting disorder, severe infection that includes an atypical presentation of an infection may occur in some patients and this requires evaluation with immunologic study.
Agammaglobulinemia/complications/*diagnosis/immunology ; Anti-Bacterial Agents/therapeutic use ; Ceftriaxone/therapeutic use ; Drug Resistance, Bacterial ; Empyema, Pleural/*diagnosis/etiology/radiography ; Female ; Humans ; IgA Deficiency/*diagnosis/immunology ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Infant ; Staphylococcal Infections/*diagnosis/drug therapy/microbiology ; Tomography, X-Ray Computed