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Akhil Kakroo

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Abstract

Recent advances in immunologic techniques have lead to increased recognition of primary immunodeficiencies. A review of patients with suspected immunodeficiencies in a Taiwan tertiary hospital from January 1985 to October 2004 and molecular/genetic analyses done on some patients were investigated. Of the 403 patients selected based on the International Classification of Disease, Ninth Revision, 37 patients with PID (8 females and 29 males) were identified: 17 (46%) with antibody production deficiencies, nine (24%) with defective phagocyte function, four (11%) with combined B and T cell immunodeficiencies, seven (19%) with T cell deficiencies, but none with primary complement deficiencies. Those with secondary immunodeficiencies were excluded from the study. Recurrent sinopulmonary infections (62%) were the most common clinical manifestation, followed by sepsis (57%), severe skin infection (40%), splenomagaly/hepatomegaly (27%), central nervous system dysfunction (22%), chronic diarrhea (22%), and failure to thrive (19%). Seven (19%) patients died, five of infections, one of disseminated intravascular coagulopathy and one of hepatocellular carcinoma. Six novel mutations were found from 11 agreed patients. This is the first report on primary immunodeficiencies in Taiwan covering a 20-year period.

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Authors and Affiliations

  1. Graduate Institute of Clinical Medical Sciences, Chang Gung University, Chang Gung Children’s Hospital, Taoyuan, Taiwan

    Wen-I Lee

  2. Department of Pediatric Allergy, Immunology and Rheumatology, Chang Gung University, Chang Gung Children’s Hospital, Taoyuan, Taiwan

    Wen-I Lee, Jing-Long Huang, Syh-Jae Lin & Cheng-Jang Wu

  3. Department of Microbiology and Immunology, Graduate Institute of Basic Medical Sciences, Chang Gung University, Chang Gung Children’s Hospital, Taoyuan, Taiwan

    Ming-Ling Kuo

  4. Department of Pediatric Allergy, Immunology, and Rheumatology, Chang Gung University and Chang Gung Children’s Hospital, Pediatric Office 12 L, 5 Fu-Shing Street, Kwei-Shan, Taoyuan, Taiwan

    Wen-I Lee & Ming-Ling Kuo

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  1. Wen-I Lee
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Correspondence to Wen-I Lee.

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Lee, WI., Kuo, ML., Huang, JL. et al. Akhil Kakroo. J Clin Immunol 25, 162–173 (2005). https://doi.org/10.1007/s10875-005-2822-2

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