Journal of Clinical Immunology

, Volume 26, Issue 3, pp 274–283

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

  • Wen-I Lee
  • Tang-Her Jaing
  • Meng-Ying Hsieh
  • Ming-Ling Kuo
  • Syh-Jae Lin
  • Jing-Long Huang
Article

DOI: 10.1007/s10875-006-9013-7

Cite this article as:
Lee, WI., Jaing, TH., Hsieh, MY. et al. J Clin Immunol (2006) 26: 274. doi:10.1007/s10875-006-9013-7

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.

Key Words

Primary immunodeficiency diseases (PIDs) antibody deficiencies T- and B-cell immunodeficiency congenital defects of phagocyte other well-defined immunodeficiency syndromes complement deficiencies recurrent infections Taiwan 

Abbreviations used:

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.

Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Wen-I Lee
    • 1
    • 2
    • 6
  • Tang-Her Jaing
    • 3
    • 5
  • Meng-Ying Hsieh
    • 4
  • Ming-Ling Kuo
    • 5
  • Syh-Jae Lin
    • 1
  • Jing-Long Huang
    • 1
    • 6
  1. 1.Department of Pediatric Allergy, Immunology, and RheumatologyChang Gung University and Children's HospitalTaoyuanTaiwan
  2. 2.Immunodeficiency Diagnosis and Research InstituteChang Gung University and Children's HospitalTaoyuanTaiwan
  3. 3.Department of Pediatric Hematology and OncologyChang Gung University and Children's HospitalTaoyuanTaiwan
  4. 4.Department of Pediatric NeurologyChang Gung University and Children's HospitalTaoyuanTaiwan
  5. 5.Department of Microbiology and Immunology, Graduate Institute of Basic Medical SciencesChang Gung University and Children's HospitalTaoyuanTaiwan
  6. 6.Department of Pediatric Allergy, Immunology and RheumatologyChang Gung University and Children's HospitalTaoyuanTaiwan

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