{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T21:44:54Z","timestamp":1776721494942,"version":"3.51.2"},"reference-count":9,"publisher":"Colegio Mexicano de Inmunologia Clinica y Alergia, A. C.","issue":"4","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"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: La neutropenia cong\u00e9nita es una inmunodeficiencia primaria caracterizada por un recuento bajo de neutr\u00f3filos, lo que predispone a infecciones recurrentes. La mutaci\u00f3n en el gen ELANE es una causa com\u00fan de este trastorno.\nCaso cl\u00ednico: Lactante femenina de 3 meses, con antecedente de infecciones bacterianas recurrentes desde el nacimiento. La paciente hab\u00eda padecido onfalitis y celulitis preseptal, asociadas con recuento bajo de neutr\u00f3filos en sangre. Ante la sospecha de neutropenia cong\u00e9nita, el panel gen\u00e9tico identific\u00f3 una mutaci\u00f3n patog\u00e9nica en el gen ELANE (c.164G&gt;A, p.Cys55Tyr). Se instaur\u00f3 tratamiento con factor estimulante de colonias de granulocitos (G-CSF), lo que aument\u00f3 significativamente el recuento de neutr\u00f3filos y cur\u00f3 las infecciones recurrentes. La paciente tuvo notable mejor\u00eda cl\u00ednica y actualmente se mantiene en protocolo terap\u00e9utico y seguimiento regular.\nConclusi\u00f3n: Este caso ilustra la importancia del diagn\u00f3stico temprano de la neutropenia cong\u00e9nita en pacientes pedi\u00e1tricos con infecciones bacterianas recurrentes y de dif\u00edcil tratamiento.\nPalabras clave: Neutropenia cong\u00e9nita; Neutr\u00f3filos; Infecciones recurrentes; Mutaci\u00f3n ELANE; Celulitis; Factor estimulante de colonias de granulocitos; Diagn\u00f3stico oportuno.<\/jats:p>","DOI":"10.29262\/ram.v72i4.1541","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:36:21Z","timestamp":1767828981000},"page":"376-381","source":"Crossref","is-referenced-by-count":0,"title":["&lt;b&gt;Neutropenia cong\u00e9nita: reporte de un caso cl\u00ednico &lt;\/b&gt;","&lt;b&gt;Congenital neutropenia: a clinical case report &lt;\/b&gt;"],"prefix":"10.29262","volume":"72","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9325-9793","authenticated-orcid":false,"given":"Sebastian","family":"Jimenez Covarrubias","sequence":"first","affiliation":[{"name":"Universidad An\u00e1huac Puebla, San Andr\u00e9s Cholula, M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-6841","authenticated-orcid":false,"given":"Giovanni","family":"Sorcia Ramirez","sequence":"additional","affiliation":[{"name":"Hospital \u00c1ngeles Puebla, M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11808","published-online":{"date-parts":[[2025,12,19]]},"reference":[{"key":"65510","doi-asserted-by":"crossref","unstructured":"1. Lehman KH, Segal BH. The role of neutrophils in host defense and disease. J Allergy Clin Immunol 2020; 145 (6): 1535-44. https:\/\/doi.org\/10.1016\/j.jaci.2020.02.038","DOI":"10.1016\/j.jaci.2020.02.038"},{"key":"65511","doi-asserted-by":"crossref","unstructured":"2. Mickey D, Valdes-Camacho J, Khan A, Kaufman D. Immunodeficiency: Quantitative and qualitative phagocytic cell defects. Allergy Asthma Proc 2024; 45: 299-304. https:\/\/doi.org\/10.2500\/aap.2024.45.240049","DOI":"10.2500\/aap.2024.45.240049"},{"key":"65512","doi-asserted-by":"crossref","unstructured":"3. Spoor J, Farajifard H, Rezaei N. Congenital neutropenia and primary immunodeficiency diseases. Crit Rev Oncol Hematol 2019; 135: 173-84. https:\/\/doi.org\/10.1016\/j.critrevonc.2018.10.003","DOI":"10.1016\/j.critrevonc.2018.10.003"},{"key":"65513","doi-asserted-by":"crossref","unstructured":"4. Guzman-Cotaya R, Baeza-Bastarrachea R, Espinosa-Padilla SE. Neutropenia cong\u00e9nita. Alergia, Asma e Inmunolog\u00eda 1998; 30 (1): 24-7. https:\/\/dx.doi.org\/10.35366\/100114","DOI":"10.35366\/100114"},{"key":"65514","doi-asserted-by":"crossref","unstructured":"5. Hauck F, Klein C. Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. Curr Opin Allergy Clin Immunol 2013; 13 (6): 613-21. https:\/\/doi.org\/10.1097\/ACI.0000000000000014","DOI":"10.1097\/ACI.0000000000000014"},{"key":"65515","doi-asserted-by":"crossref","unstructured":"6. Skokowa J, Dale DC, Touw IP, Zeidler C, et al. Severe congenital neutropenias. Nat Rev Dis Primers 2018; 4: 26. https:\/\/doi.org\/10.1038\/nrdp.2017.32","DOI":"10.1038\/nrdp.2017.32"},{"key":"65516","doi-asserted-by":"crossref","unstructured":"7. Wang J, Zhang H, Wang Y, Liang L, et al. Severe congenital neutropenia caused by ELANE gene mutation: A case report and literature review. Medicine (Baltimore) 2022; 101 (2): e31357. https:\/\/doi.org\/10.1097\/MD.0000000000031357","DOI":"10.1097\/MD.0000000000031357"},{"key":"65517","doi-asserted-by":"crossref","unstructured":"8. Arun AK, Senthamizhselvi A, Hemamalini S. Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin. J Clin Pathol 2018; 71 (11): 1046-50. https:\/\/doi.org\/10.1136\/jclinpath-2018-205235","DOI":"10.1136\/jclinpath-2018-205235"},{"key":"65518","doi-asserted-by":"crossref","unstructured":"9. Vaca CL, Hidalgo JL. Agammaglobulinemia ligada al cromo- soma X, lo crucial del diagn\u00f3stico y tratamiento oportunos. Cambios Rev M\u00e9d 2019; 18 (1): 90-95. https:\/\/doi.org\/10.36015\/cambios.v18.n1.2019.395","DOI":"10.36015\/cambios.v18.n1.2019.395"}],"container-title":["Revista Alergia M\u00e9xico"],"original-title":[],"link":[{"URL":"https:\/\/revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1541\/2799","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1541\/2822","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/revistaalergia.mx\/ojs\/index.php\/ram\/article\/download\/1541\/2799","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T20:56:55Z","timestamp":1776718615000},"score":1,"resource":{"primary":{"URL":"https:\/\/revistaalergia.mx\/ojs\/index.php\/ram\/article\/view\/1541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,19]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,12,19]]}},"URL":"https:\/\/doi.org\/10.29262\/ram.v72i4.1541","relation":{},"ISSN":["2448-9190","0002-5151"],"issn-type":[{"value":"2448-9190","type":"electronic"},{"value":"0002-5151","type":"print"}],"subject":[],"published":{"date-parts":[[2025,12,19]]}}}