Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers

Authors

  • Edgar Matos-Benavides Centro de Referencia Nacional de Alergia, Asma e Inmunología. Instituto Nacional de Salud del Niño. Lima, Perú. Sociedad Peruana de Inmunología (SPI). Lima, Perú. Universidad Nacional Mayor de San Marcos. Lima, Perú. Médico inmunólogo clínico-alergólogo
  • David Garcia-Gomero Centro de Referencia Nacional de Alergia, Asma e Inmunología. Instituto Nacional de Salud del Niño. Lima, Perú. Sociedad Peruana de Inmunología (SPI). Lima, Perú. médico cirujano
  • Rosario Inocente-Malpartida Centro de Referencia Nacional de Alergia, Asma e Inmunología. Instituto Nacional de Salud del Niño. Lima, Perú. Sociedad Peruana de Inmunología (SPI). Lima, Perú. tecnólogo médico
  • Wilmer Córdova-Calderón Centro de Referencia Nacional de Alergia, Asma e Inmunología. Instituto Nacional de Salud del Niño. Lima, Perú. Sociedad Peruana de Inmunología (SPI). Lima, Perú. Médico inmunólogo clínico-alergólogo
  • Juan Aldave-Becerra Sociedad Peruana de Inmunología (SPI). Lima, Perú. Hospital Nacional Edgardo Rebagliati Martins. Lima, Perú. Médico inmunólogo clínico-alergólogo

DOI:

https://doi.org/10.17843/rpmesp.2019.364.4311

Keywords:

Agammaglobulinaemia, Genotype, Bruton type agammaglobulinemia, Peru

Abstract

Primary agammaglobulinemia result from specific alterations in B cells, which lead to low antibody production. Diagnostic suspicion is established with a history of repeated infections, low immunoglobulins, and absence of CD19+ B lymphocytes. The diagnosis is confirmed by genetic analysis and the detection of a mutation linked to the X or autosomal recessive or dominant chromosome. In Peru, there is no literature on primary agammaglobulinemia and no reports on the genotype of patients with suspected primary agammaglobulinemia. Under this scenario, a study was performed to describe the genotype of patients with suspected primary agammaglobulinemia. Twenty (20) patients were found with mutations in the BTK gene and an autosomal recessive IGHM mutation. Thirteen (13) hereditary mutations and seven de novo mutations were found. It is concluded that the group of primary agammaglobulinemia are mostly mutations in the BTK gene, corresponding to X-linked agammaglobulinemia.

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Published

2019-12-03

Issue

Section

Brief Report

How to Cite

1.
Matos-Benavides E, Garcia-Gomero D, Inocente-Malpartida R, Córdova-Calderón W, Aldave-Becerra J. Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers. Rev Peru Med Exp Salud Publica [Internet]. 2019 Dec. 3 [cited 2024 Apr. 14];36(4):664-9. Available from: https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4311

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