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Distribution, Infections, Treatments and Molecular Analysis in a Large Cohort of Patients with Primary Immunodeficiency Diseases (PIDs) in Taiwan

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One hundred and twenty-four patients (from 120 families) diagnosed as primary immunodeficiency diseases were enrolled from five tertiary medical centers. The distribution by an update eight categories showed 45 patients (13 females/32 males; 36.3%) with “predominant antibody deficiencies,” 27 patients (6/21; 21.8%) with “T- and B-cell immunodeficiency,” 25 patients (9/16; 20.2%) with “congenital defects of phagocyte,” 25 patients (4/21; 20.2%) with “other well-defined immunodeficiency syndromes,” one boy (0.8%) with “disease in immune deregulation” (Chediak-Higashi syndrome) and another with “complement 3 deficiency.” None had “defects in innate immunity” or “auto inflammatory disorders.” Pseudomonas and Salmonella spp. were the two most identified microorganisms in septicemia (39.7%; 27/68 episodes). Twenty-three patients (18.5%) had mortality. Stem cell transplantation succeeded in 7 of 12 patients. In addition to nine patients with DiGerge syndrome recognized by FISH, direct sequencing identified 12 unique mutations from 20 families, reflecting distinct Taiwan geography, although a selection bias may exist.

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Abbreviations

PIDs:

primary immunodeficiency diseases

HIGM:

hyper IgM syndrome

NEMO:

nuclear factor kB (NF-κB) essential modulator

ICOS:

inducible co-stimulatory molecule

ICOSL:

ICOS ligand

CVID:

common variable immunodeficiency

CD40L:

CD40 ligand

AID:

activation-induced cytidine deaminase

SAP:

signaling lymphocyte activation molecule-associated protein

WASP:

Wiskott-Aldrich syndrome protein

AT:

ataxia telangiectasia

HIES:

hyper IgE syndrome

LAD:

leukocyte adhesion disease

CHS:

Chediak-Higashi syndrome

SCID:

severe combined T- and B-cell immunodeficiency

CGD:

chronic granulomatous disease

GvHD:

graft vs. host disease

PBMC:

peripheral blood mononuclear cells

RT-PCR:

reverse transcriptase polymerase chain reaction

FISH:

fluorescence in situ hybridization.

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ACKNOWLEDGMENTS

The authors would like to thank Bor-Luen Chiang MD, PhD in National Taiwan University hospital (NT), Shyh-Dar Shyur MD in Mackay memorial hospital (MK), Wen-Jue Soong MD in Veterans hospital (Ve), and Shyh-Shin Chiou MD, PhD in Kaohsing University hospital (Ks) for the referrals, all participating patients and families for their kind cooperation. We also wish to express our gratitude to Mai-Tzu Chen, Hsiu-Li Chou and Hsiu-Shan Hsiao for their technical assistance. This study was supported in part by Chang-Gung Medical Research Progress grants (CMRPG 32069 awarded to W.I. Lee and 32003 to J.L. Huang) and National Science Council grants (NMRPG 3131 and C 93-2314-B-182A-111 to W.I. Lee and 3116 to J.L. Huang).

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Authors and Affiliations

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

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

  2. Immunodeficiency Diagnosis and Research Institute, Chang Gung University and Children's Hospital, Taoyuan, Taiwan

    Wen-I Lee

  3. Department of Pediatric Hematology and Oncology, Chang Gung University and Children's Hospital, Taoyuan, Taiwan

    Tang-Her Jaing

  4. Department of Pediatric Neurology, Chang Gung University and Children's Hospital, Taoyuan, Taiwan

    Meng-Ying Hsieh

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

    Tang-Her Jaing & Ming-Ling Kuo

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

    Wen-I Lee & Jing-Long Huang

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  1. Wen-I Lee
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Lee, WI., Jaing, TH., Hsieh, MY. et al. Distribution, Infections, Treatments and Molecular Analysis in a Large Cohort of Patients with Primary Immunodeficiency Diseases (PIDs) in Taiwan. J Clin Immunol 26, 274–283 (2006). https://doi.org/10.1007/s10875-006-9013-7

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