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

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1286-1294
Number of pages9
JournalImmunobiology
Volume216
Issue number12
DOIs
Publication statusPublished - Dec 2011
Externally publishedYes

Fingerprint

Hospital Distribution Systems
Population
Therapeutics
Chediak-Higashi Syndrome
Albinism
Agammaglobulinemia
Antibodies
Immune System Diseases
Stem Cell Transplantation
Phagocytes
Rare Diseases
Streptococcus pneumoniae
Pseudomonas
Taiwan
Innate Immunity
Sepsis
B-Lymphocytes
Referral and Consultation
Physicians
Incidence

Keywords

  • Antibody deficiencies
  • Chinese
  • Complement deficiencies
  • Immunodeficiency
  • Molecular analysis
  • Phagocyte defects
  • Recurrent infections
  • Taiwan

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Hematology

Cite this

Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010. / Lee, Wen I.; Huang, Jing Long; Jaing, Tang Her; Shyur, Shyh Dar; Yang, Kunder D.; Chien, Yin Hsiu; Chiang, Bor Luen; Soong, Wen Jue; Chiou, Shyh Shin; Shieh, Chi Chang; Lin, Syh Jae; Yeh, Kuo Wei; Chen, Li Chen; Ou, Liang Shiou; Yao, Tsung Chieh; Lin, Tzou Yien; Chiu, Cheng Hsun; Huang, Yhu Chering; Wu, Kang Hsi; Lin, Ching Yuang; Yu, Hsin Hui; Yang, Yao Hsu; Yu, Hong Ren; Yen, Hsiu Ju; Hsieh, Meng Ying; Kuo, Ming Ling; Hwu, Wuh Liang; Tsai, Yi Chan; Kuo, Ho Chang; Lin, Yi Ling; Shih, Ying Fan; Chang, Kuei Wen.

In: Immunobiology, Vol. 216, No. 12, 12.2011, p. 1286-1294.

Research output: Contribution to journalArticle

Lee, WI, Huang, JL, Jaing, TH, Shyur, SD, Yang, KD, Chien, YH, Chiang, BL, Soong, WJ, Chiou, SS, Shieh, CC, Lin, SJ, Yeh, KW, Chen, LC, Ou, LS, Yao, TC, Lin, TY, Chiu, CH, Huang, YC, Wu, KH, Lin, CY, Yu, HH, Yang, YH, Yu, HR, Yen, HJ, Hsieh, MY, Kuo, ML, Hwu, WL, Tsai, YC, Kuo, HC, Lin, YL, Shih, YF & Chang, KW 2011, 'Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010', Immunobiology, vol. 216, no. 12, pp. 1286-1294. https://doi.org/10.1016/j.imbio.2011.06.002
Lee, Wen I. ; Huang, Jing Long ; Jaing, Tang Her ; Shyur, Shyh Dar ; Yang, Kunder D. ; Chien, Yin Hsiu ; Chiang, Bor Luen ; Soong, Wen Jue ; Chiou, Shyh Shin ; Shieh, Chi Chang ; Lin, Syh Jae ; Yeh, Kuo Wei ; Chen, Li Chen ; Ou, Liang Shiou ; Yao, Tsung Chieh ; Lin, Tzou Yien ; Chiu, Cheng Hsun ; Huang, Yhu Chering ; Wu, Kang Hsi ; Lin, Ching Yuang ; Yu, Hsin Hui ; Yang, Yao Hsu ; Yu, Hong Ren ; Yen, Hsiu Ju ; Hsieh, Meng Ying ; Kuo, Ming Ling ; Hwu, Wuh Liang ; Tsai, Yi Chan ; Kuo, Ho Chang ; Lin, Yi Ling ; Shih, Ying Fan ; Chang, Kuei Wen. / Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010. In: Immunobiology. 2011 ; Vol. 216, No. 12. pp. 1286-1294.
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