A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.
Agammaglobulinemia/complications* ; Bronchiectasis/complications* ; Humans ; Retrospective Studies ; Thymoma/complications* ; Thymus Neoplasms/complications*

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

PURPOSE: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene resulting in defective B cell differentiation. Because it is a relatively rare disorder, it is difficult for clinicians to have a comprehensive understanding of XLA due to a lack of exposure to the disease. Clinical presentations of patients with XLA were analyzed and discussed to improve care plans. MATERIALS AND METHODS: During a 20 year period, from January 1987 to June 2006, a total of 19 patients were diagnosed as XLA in the Department of Pediatrics at Severance Hospital, Seoul, Korea. A retrospective analysis of the clinical presentations of those patients was performed. RESULTS: The mean age of the XLA patients included in the study was 4.89 years, with a range of 6 months to 13 years. Twelve patients were diagnosed before age 5, while the other 7 patients were diagnosed after age 5. Recurrent infections observed in the patients included pneumonia, acute otitis media, septic arthritis, skin infection, sepsis, sinusitis, acute gastroenteritis, cervical lymphadenitis, epididymitis, meningitis, osteomyelitis, urinary tract infection and encephalitis. Frequency of admissions was variable from 0 to 12 times, depending on the time at which immunoglobulin therapy was started. Six cases had family histories positive for XLA. BTK gene mutations were found in 8 cases. CONCLUSION: The overall prognosis of XLA is good as long as patients are diagnosed and treated early with regular intra venous gamma globulin therapy before the sequelae of recurrent infections appear.
Adolescent ; Agammaglobulinemia/complications/*diagnosis/drug therapy/genetics ; Child ; Child, Preschool ; Genetic Diseases, X-Linked/enzymology/genetics/pathology ; *Hospitals ; Humans ; Infant ; Male ; Protein-Tyrosine Kinases/genetics/metabolism ; Retrospective Studies ; Time Factors

OBJECTIVEX-linked agammaglobulinemia (XLA), caused by mutations in Bruton's tyrosine kinase (BTK), is a common form of inherited antibody deficiency. There were very few case reports of this disease that were diagnosed only based on clinical findings in China. The purpose of this study was to evaluate the clinical features of 8 Chinese cases with XLA with BTK defect which were confirmed by flow cytometry and/or gene analysis.

METHODBased on clinical findings, 8 suspected XLA patients were confirmed by detecting the expression of BTK by flow cytometry and/or gene analysis of BTK. The history and thorough physical examination and routine immunological evaluation of 8 cases were collected and reviewed.

RESULTSThe age of onset of all the 8 male patients were from 3 months to 3 years. The mean age at diagnosis was 6 years. Recurrent upper respiratory infection and pneumonia with fever were seen in all the patients. Nasopharynx infection was mainly contributed to upper respiratory infection. Very few or no otitis (1/8) and sinusitis (0/8) were involved. Polyarthritis without evidence of infection was common (3/8). Chronic diarrhea was documented during the first 2 years after the onset of the disease in 2 cases. Two of the patients suffered from meningitis one time each. Skin infection was not serious in two patients. Osteomyelitis occurred in one case, which occurred secondary to a trauma. One case had poliomyelitis-like disease that was considered to be related to polio vaccine. Only two cases had unconfirmed maternal family history of XLA. The prominent signs at diagnosis were dystrophia, growth and developmental retardation and markedly decreased or absent tonsils and lymph nodes. Concentration of all classes of serum immunoglobulins (Igs) and the number of B cells in the peripheral circulation were dramatically decreased. The ratio of CD4/CD8 in most of the patients (6/8) was markedly inverse.

CONCLUSIONThe age at diagnosis of this reported group was older. Clinical symptoms displayed recurrent upper respiratory infection (nasopharynx infection but rare or no otitis or sinusitis) and pneumonia; polyarthritis was common. There were no confirmed family history of XLA. Most of the patients showed inverse ratios of CD4/CD8, the reason and potential significance are unclear.

Agammaglobulinemia ; complications ; diagnosis ; genetics ; Arthritis ; etiology ; CD4-CD8 Ratio ; Child ; Child, Preschool ; Flow Cytometry ; Humans ; Infant ; Male ; Mutation ; Nasopharyngeal Diseases ; etiology ; Pneumonia ; etiology ; Protein-Tyrosine Kinases ; genetics ; Recurrence ; Respiratory Tract Infections ; etiology

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