{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T08:50:42Z","timestamp":1747212642430,"version":"3.40.5"},"reference-count":1,"publisher":"Colegio Mexicano de Inmunologia Clinica y Alergia, A. C.","issue":"1","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Alerg Mex"],"abstract":"<jats:p>Antecedentes: Las variantes en genes del transporte de calcio intracelular han sido asociadas a inmunodeficiencias sindr\u00f3micas con un fenotipo\u00a0IDCG.\nReporte de caso: Ni\u00f1a de siete a\u00f1os, de padres no consangu\u00edneos, en Cartagena-Colombia. A los dos meses de vida, presenta hematoquecia y se\u00a0diagnostica con proctolitis alimentaria sin mejor\u00eda con restricci\u00f3n a leche, trigo y huevo, desarrollando desnutrici\u00f3n. A los ocho meses, una biopsia\u00a0de colon muestra hiperplasia linfoide cr\u00f3nica, cursa con anemia, eosinofilia, pero IgE total y espec\u00edfica a alimentos normales. A los cuatro a\u00f1os, el\u00a0Servicio de Inmunolog\u00eda la encuentra asintom\u00e1tica, recuperada nutricionalmente y sin sensibilizaci\u00f3n al\u00e9rgica, pero persiste eosinofilia y calprotectina\u00a0elevada, sugiriendo una enfermedad inflamatoria intestinal de inicio temprano. Las inmunoglobulinas fueron normales, poblaciones linfocitarias\u00a0con linfopenia CD3, CD4 y CD8. A los seis a\u00f1os, presenta dermatitis at\u00f3pica, sigue con calprotectina elevada y linfop\u00e9nica. El inmunofenotipo\u00a0por citometr\u00eda espectral mediante Cytek\u00aecFluor\u00aeImmunoprofiling-Kit14, mostr\u00f3 linfopenia e inversi\u00f3n CD4\/CD8. Los linfocitos T-v\u00edrgenes CD4+ y\u00a0CD8+ estaban disminuidos, en cambio las poblaciones de memoria efectora T-CD8+CD45RA-CCR7- y T-CD8+CD45RA+CCR7\u2013 estaban expandidas.\u00a0Los linfocitos T-CD4+ de memoria efectora y central, tambi\u00e9n estaban aumentados1 (Imagen 1). El exoma revel\u00f3 una variante heterocig\u00f3tica en el\u00a0gen ITPR3 (padre portador), c.7571G&gt;A, p.(Arg2524His); los predictores la clasifican como de potencial efecto delet\u00e9reo.\nConclusiones: La cl\u00ednica y el inmunofenotipo de esta variante candidata difiere de otras relacionadas con el transporte del calcio intracelular. Son\u00a0necesarios estudios funcionales para validar su causalidad. Una paciente con una variante potencialmente delet\u00e9rea, presenta un inmunofenotipo con\u00a0linfopenia CD3 y activaci\u00f3n persistente de los linfocitos.<\/jats:p>","DOI":"10.29262\/ram.v71i1.1361","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T17:18:22Z","timestamp":1714151902000},"page":"59","source":"Crossref","is-referenced-by-count":0,"title":["Inmunofenotipo por citometr\u00eda espectral, revela un perfil de linfopenia asociado a desregulaci\u00f3n con aumento de linfocitos de memoria efectora en paciente con mutaci\u00f3n en el gen ITPR3","Immunophenotype by spectral cytometry reveals a lymphopenia profile associated with dysregulation, with an increase in effector memory lymphocytes in a patient with an ITPR3 gene mutation"],"prefix":"10.29262","volume":"71","author":[{"given":"Cesar Andr\u00e9s","family":"Mu\u00f1oz Mej\u00eda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria M\u00f3nica","family":"De Vivero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Acevedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11808","published-online":{"date-parts":[[2025,3,20]]},"reference":[{"key":"57381","unstructured":"No aplica"}],"container-title":["Revista Alergia M\u00e9xico"],"original-title":[],"link":[{"URL":"https:\/\/www.revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1361\/2268","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1361\/2269","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1361\/2268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T16:12:59Z","timestamp":1744215179000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.revistaalergia.mx\/ojs\/index.php\/ram\/article\/view\/1361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,20]]},"references-count":1,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,4,23]]}},"URL":"https:\/\/doi.org\/10.29262\/ram.v71i1.1361","relation":{},"ISSN":["2448-9190","0002-5151"],"issn-type":[{"type":"electronic","value":"2448-9190"},{"type":"print","value":"0002-5151"}],"subject":[],"published":{"date-parts":[[2025,3,20]]}}}