선천성 면역 결핍질환의 임상적 고찰 = Clinical Features of Primary Immunodeficiency Diseases

다국어 초록 (Multilingual Abstract)

Purpose: Primary immunodeficiency diseases are rare, innate defects of the immune system. Prompt diagnosis can lead to life-saving treatment and improvement in quality of life. We described the clinical features of primary immunodeficiency diseases which had been diagnosed in our institution during for 18 years. Methods: Twenty-five patients diagnosed with primary immunodeficiency diseases were analyes in terms of their ages at diagnosis, presenting characteristics, types of primary immunodeficiency diseases and clinical courses. We retrospectively reviewed their medical records between 1990 and 2007 in Busan National University, Busan, Korea. Results: Twenty males and 5 females were studied. Ages at diagnosis were variable, but 15 patiens (60%) were ages <3 years. The most common symptom was chronic coughing, and 12 patients were initially diagnosed as having bronchitis or pneumonia. Most patients had a past history of recurrent bronchitis, pneumonia or upper respiratory infections. Selective IgA deficiency was found in 11 cases (44%), panhypogammaglobulinemia in 3 cases (12%) and common variable immunodeficiency diseases such as DiGeorge syndrome and chronic granulomatous disease in 2 cases (8%), respectively. IgG4 deficiency and hyper IgE syndrome were found in 1 case, respectively. All patients with panhypogammaglobulinemia were regularly treated with IVIG, 1 patient chronic granulomatous disease was regularly treated with IFN-γ. In many cases, upper respiratory infections, bronchitis, pneumonia, acute gastroenteritis, urinary tract infection were recurrent. Conclusions: Primary immunodeficiency diseases should be considered in children with recurrent or severe infections, because early diagnosis and treatment can reduce mortality and morbidity. [Pediatr Allergy Respir Dis(Korea) 2009;19:220-232]