{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T00:00:25Z","timestamp":1788393625566,"version":"build-2803163510"},"reference-count":0,"publisher":"Instituto Nacional de Salud (Peru)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Peru Med Exp Salud Publica"],"abstract":"<jats:p>Las agammaglobulinemias primarias (AP) resultan de alteraciones espec\u00edficas en las c\u00e9lulas B, lo cual, conduce a\u00a0baja producci\u00f3n de anticuerpos. La sospecha diagn\u00f3stica se establece con el antecedente de infecciones a repetici\u00f3n,\u00a0inmunoglobulinas bajas y la ausencia linfocitos B CD19+. El diagn\u00f3stico se confirma mediante el an\u00e1lisis gen\u00e9tico y la\u00a0detecci\u00f3n de una mutaci\u00f3n ligada en el cromosoma X o autos\u00f3mico recesiva o dominante. En Per\u00fa, no hay literatura\u00a0sobre AP ni reportes sobre el genotipo de los pacientes con sospecha de AP. Bajo este escenario, se realiz\u00f3 un estudio\u00a0que describi\u00f3 el genotipo de pacientes con sospecha de AP. Se encontraron 20 pacientes con mutaciones en el gen\u00a0BTK y una mutaci\u00f3n autos\u00f3mica recesiva IGHM. Se hallaron 13 mutaciones hereditarias y siete mutaciones de novo. Se\u00a0concluye que las AP son, en su mayor\u00eda, mutaciones en el gen BTK que corresponden con AP ligadas al cromosoma X.<\/jats:p>","DOI":"10.17843\/rpmesp.2019.364.4311","type":"journal-article","created":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T08:47:06Z","timestamp":1577177226000},"page":"664-9","source":"Crossref","is-referenced-by-count":4,"title":["Diagn\u00f3stico gen\u00e9tico de pacientes con agammaglobulinemia primaria atendidos en centros peruanos de tercer nivel"],"prefix":"10.17843","volume":"36","author":[{"given":"Edgar","family":"Matos-Benavides","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Garcia-Gomero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Inocente-Malpartida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilmer","family":"C\u00f3rdova-Calder\u00f3n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Aldave-Becerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7920","published-online":{"date-parts":[[2019,12,6]]},"container-title":["Revista Peruana de Medicina Experimental y Salud P\u00fablica"],"original-title":[],"link":[{"URL":"https:\/\/rpmesp.ins.gob.pe\/index.php\/rpmesp\/article\/viewFile\/4311\/3434","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/rpmesp.ins.gob.pe\/index.php\/rpmesp\/article\/viewFile\/4311\/3434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,24]],"date-time":"2019-12-24T08:47:13Z","timestamp":1577177233000},"score":1,"resource":{"primary":{"URL":"https:\/\/rpmesp.ins.gob.pe\/index.php\/rpmesp\/article\/view\/4311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,6]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,12,6]]}},"URL":"https:\/\/doi.org\/10.17843\/rpmesp.2019.364.4311","relation":{},"ISSN":["1726-4642","1726-4634"],"issn-type":[{"value":"1726-4642","type":"electronic"},{"value":"1726-4634","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12,6]]}}}