지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 28 - 36 (9page)
이용수
초록· 키워드
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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.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Bruton OC / 1952 / Agammaglobulinemia / Pediatrics 9 : 722 ~ 728
Bykowsky MJ / 1996 / Discordant phenotype in siblings with X-linked agammaglobulinemia / Am J Hum Genet 58 : 477 ~ 483
Campana D / 1990 / Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia / J Immunol 145 : 1675 ~ 1680
Chan KW / 2006 / Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing / Int J Immunogenet
Conley ME / 1999 / Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodefi
Bykowsky MJ / 1996 / Discordant phenotype in siblings with X-linked agammaglobulinemia / Am J Hum Genet 58 : 477 ~ 483
Campana D / 1990 / Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia / J Immunol 145 : 1675 ~ 1680
Chan KW / 2006 / Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing / Int J Immunogenet
Conley ME / 1999 / Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodefi
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