Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers
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 de...
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| Format: | Article |
| Language: | Spanish |
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Instituto Nacional de Salud
2019-12-01
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| Series: | Revista Peruana de Medicina Experimental y Salud Pública |
| Subjects: | |
| Online Access: | https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4311 |
| _version_ | 1818776020436647936 |
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| author | Edgar Matos-Benavides David Garcia-Gomero Rosario Inocente-Malpartida Wilmer Córdova-Calderón Juan Aldave-Becerra |
| author_facet | Edgar Matos-Benavides David Garcia-Gomero Rosario Inocente-Malpartida Wilmer Córdova-Calderón Juan Aldave-Becerra |
| author_sort | Edgar Matos-Benavides |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-18T11:06:17Z |
| format | Article |
| id | doaj.art-817223bf30784df3b19f256e7204cd5a |
| institution | Directory Open Access Journal |
| issn | 1726-4634 1726-4642 |
| language | Spanish |
| last_indexed | 2024-12-18T11:06:17Z |
| publishDate | 2019-12-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Revista Peruana de Medicina Experimental y Salud Pública |
| spelling | doaj.art-817223bf30784df3b19f256e7204cd5a2022-12-21T21:10:05ZspaInstituto Nacional de SaludRevista Peruana de Medicina Experimental y Salud Pública1726-46341726-46422019-12-01364664910.17843/rpmesp.2019.364.43112275Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centersEdgar Matos-Benavides0David Garcia-Gomero1Rosario Inocente-Malpartida2Wilmer Córdova-Calderón3Juan Aldave-Becerra4Centro 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-alergólogoCentro 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 Universidad Peruana Cayetano Heredia. Lima, Perú.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 Universidad Peruana Cayetano Heredia. Lima, Perú.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-alergólogoSociedad Peruana de Inmunología (SPI). Lima, Perú. Hospital Nacional Edgardo Rebagliati Martins. Lima, Perú. Médico inmunólogo clínico-alergólogoPrimary 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.https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4311agammaglobulinaemia, survival, genotype. |
| spellingShingle | Edgar Matos-Benavides David Garcia-Gomero Rosario Inocente-Malpartida Wilmer Córdova-Calderón Juan Aldave-Becerra Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers Revista Peruana de Medicina Experimental y Salud Pública agammaglobulinaemia, survival, genotype. |
| title | Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| title_full | Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| title_fullStr | Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| title_full_unstemmed | Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| title_short | Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| title_sort | genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers |
| topic | agammaglobulinaemia, survival, genotype. |
| url | https://rpmesp.ins.gob.pe/index.php/rpmesp/article/view/4311 |
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