Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010

Wen I. Lee, Jing Long Huang, Tang Her Jaing, Shyh Dar Shyur, Kunder D. Yang, Yin Hsiu Chien, Bor Luen Chiang, Wen Jue Soong, Shyh Shin Chiou, Chi Chang Shieh, Syh Jae Lin, Kuo Wei Yeh, Li Chen Chen, Liang Shiou Ou, Tsung Chieh Yao, Tzou Yien Lin, Cheng Hsun Chiu, Yhu Chering Huang, Kang Hsi Wu, Ching Yuang LinHsin Hui Yu, Yao Hsu Yang, Hong Ren Yu, Hsiu Ju Yen, Meng Ying Hsieh, Ming Ling Kuo, Wuh Liang Hwu, Yi Chan Tsai, Ho Chang Kuo, Yi Ling Lin, Ying Fan Shih, Kuei Wen Chang

研究成果: 雜誌貢獻文章同行評審

44 引文 斯高帕斯(Scopus)

摘要

Primary immunodeficiency diseases (PIDs) are a group of rare diseases with wide geographic and ethnic variations in incidence, prevalence, and distribution patterns. The aim of this study was to examine the distribution pattern and clinical spectrum of PIDs in Taiwan at a national referral institute. From 1985 to 2010, 215 patients from 183 families were diagnosed and grouped according to the updated classification of PIDs. Eighty-one (37.7%) patients had "other well-defined immunodeficiency syndromes", followed by "predominantly antibody deficiencies" (54 patients; 25.1%), "T- and B-cell immunodeficiencies" (34; 15.8%), "congenital defects of phagocytes" (25; 20.2%), "complement deficiencies" (15; 7.0%), and "disease in immune dysregulation" (5; 2.3%). The last category included two patients with Chediak-Higashi syndrome, and one each with familial hemophagocytosis, IPEX, and hypogammaglobulinemia and albinism. One female had cold-induced auto-inflammatory disease. There were no cases of "defects in innate immunity". Pseudomonas and Streptococcus pneumoniae were the two most identified microorganisms in septicemia (42.7%; 44/103 episodes). Stem cell transplantation was successful in 13 of 22 patients, while 34 patients (15.8%) died. Molecular defects were identified in 109 individuals (from 90 families). There were relatively fewer cases of "predominantly antibody deficiencies" due to there being only a few patients with adult-onset PIDs, implying certainty bias rather than ethnic variation. Awareness of under-diagnosis among physicians rather than pediatricians is vital for timely diagnosis and consequently adequate treatment.
原文英語
頁(從 - 到)1286-1294
頁數9
期刊Immunobiology
216
發行號12
DOIs
出版狀態已發佈 - 12月 2011
對外發佈

ASJC Scopus subject areas

  • 免疫學和過敏
  • 免疫學
  • 血液學

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