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Journal Information
Vol. 47. Issue 5.
Pages 437-448 (September - October 2019)
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Vol. 47. Issue 5.
Pages 437-448 (September - October 2019)
Original Article
DOI: 10.1016/j.aller.2019.02.002
Immunological features in pediatric patients with recurrent and severe infection: Identification of Primary Immunodeficiency Diseases in Merida, Venezuela
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N.A. Linaresa, M. Boucharda, N.S. Gutiérreza, M. Colmenaresb, A. Cantor-Garciaa, J.C. Gabaldon-Figueiraa, A.V. Bellorina, B. Rujanoc, D.L. Petersond, S. Salmena,
Corresponding author
a Instituto de Inmunología Clínica, Facultad de Medicina, Universidad de Los Andes, Merida, Venezuela
b Centro de Microscopía Electrónica “Dr Ernesto Palacios Prü”. Universidad de Los Andes, Mérida, Venezuela
c Departamento de Pediatría, Instituto Autónomo Hospital Universitario de Los Andes, Merida, Venezuela
d Department of Biochemistry and Molecular Biology, Virginia Commonwealth University, Richmond, VA, USA
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Tables (3)
Table 1. RT-PCR primers.
Table 2. PIDs diagnosis and frequency.
Table 3. PIDs characteristic.
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Abstract
Introduction and objectives

Primary immunodeficiency diseases (PIDs) are disorders associated mainly with recurrent and severe infection and an increase in susceptibility to autoimmune conditions and cancer. In Venezuela, PIDs are underdiagnosed and there is usually a delay in their diagnosis. Hence there are no data concerning the frequency and type of PIDs that occur. The aim of this study was to identify and quantify the types of PIDs that occur in Merida, a population within Venezuela.

Patients or materials and methods

Following an informative program designed to alert local health professionals to the warning signs for PIDs, patients with a history of recurrent infections were referred to the Instituto de Inmunologia Clinica, Universidad de Los Andes.

Results and conclusions

During the three-year period January 2014 to January 2017, thirty-two cases of PIDs were identified in pediatric patients, and 17 different types of PIDs, were identified. Predominantly antibody deficiencies were most frequent (40.6%), followed by immunodeficiencies affecting cellular and humoral immunity (21.8%), congenital defects of phagocyte (18.7%), CID with associated or syndromic features (9.3%), defects in intrinsic and innate immunity (6.4%) and diseases of immune dysregulation (3.2%). These results have important implications not only to the future approach for management of patients in our regions, but add important knowledge concerning PIDs in Latin America and worldwide.

Keywords:
PIDs
Immune response
Antibody deficiencies
Immunodeficiencies affecting cellular and humoral immunity
Congenital defects of phagocyte
Defects in intrinsic and innate immunity
Combined immunodeficiency
Immune dysregulation

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