{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,6,4]],"date-time":"2023-06-04T04:14:09Z","timestamp":1685852049147},"reference-count":7,"publisher":"Colegio Mexicano de Inmunologia Clinica y Alergia, A. C.","issue":"1","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"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: El s\u00edndrome WHIM corresponde a un error innato de la inmunidad innata e intr\u00ednseca, caracterizada\u00a0por verrugas (Warts), hipogammaglobulinemia, infecciones y mielocatexis, por sus siglas en ingl\u00e9s.\u00a0\nReporte de caso: Paciente masculino de 4 a\u00f1os, con neutropenia severa y linfopenia de c\u00e9lulas B desde el nacimiento,\u00a0sin infecciones severas ni verrugas. El estudio de secuenciaci\u00f3n gen\u00e9tica inform\u00f3 la variante CXCR4\u00a0c.1000C&gt;T (p.Arg334*), relacionada con el s\u00edndrome de WHIM.\nConclusi\u00f3n: El diagn\u00f3stico de neutropenia severa desde el nacimiento debe incluir la b\u00fasqueda de errores\u00a0innatos de la inmunidad, mediante estudios de secuenciaci\u00f3n gen\u00e9tica, especialmente en pacientes asintom\u00e1ticos\u00a0u oligosintom\u00e1ticos.\nPalabras clave: Neutropenia; c\u00e9lulas B; inmunidad celular; CXCR4; WHIM.<\/jats:p>","DOI":"10.29262\/ram.v70i1.1211","type":"journal-article","created":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T07:09:05Z","timestamp":1685776145000},"page":"47-50","source":"Crossref","is-referenced-by-count":0,"title":["Identificaci\u00f3n temprana de s\u00edndrome de WHIM. Informe de un caso"],"prefix":"10.29262","volume":"70","author":[{"given":"Ana Paola","family":"Mac\u00edas Robles","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Tlacuilo-Parra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adolfo Eduardo","family":"Asencio-Gallegos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz Kazuko","family":"De la Herr\u00e1n-Arita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sa\u00fal O","family":"Lugo-Reyes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11808","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"key":"45589","doi-asserted-by":"crossref","unstructured":"- Tangye SG, Al-Herz W. Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2022; 42: 1473\u20131507.","DOI":"10.1007\/s10875-022-01289-3"},{"key":"45590","doi-asserted-by":"crossref","unstructured":"- Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM. WHIM syndrome: from pathogenesis towards personalized medicine and cure. J Clin Immunol. 2019; 39: 532\u2013535.","DOI":"10.1007\/s10875-019-00665-w"},{"key":"45591","doi-asserted-by":"crossref","unstructured":"- Geier CB, Ellison M, Cruz R, et al. Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients. J Clin Immunol. 2022; 42: 1748\u20131765.","DOI":"10.1007\/s10875-022-01312-7"},{"key":"45592","unstructured":"- LASID Registry Noviembre 2022. https:\/\/lasidregistry.org\/lasid\/statistics\/diseases. 30 Noviembre 2022."},{"key":"45593","doi-asserted-by":"crossref","unstructured":"-Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, et al. Long-term outcome of WHIM syndrome in 18 patients: high risk of lung disease and HPV-related malignancies. J Allergy Clin Immunol Pract. 2019; 7: 1568\u20131577.","DOI":"10.1016\/j.jaip.2019.01.045"},{"key":"45594","doi-asserted-by":"crossref","unstructured":"- Heusinkveld LE, Yim E, Yang A, Azani AB, Liu Q, Gao JL, McDermott DH, Murphy PM. Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency. Expert Opin Orphan Drugs. 2017; 5: 813-825.","DOI":"10.1080\/21678707.2017.1375403"},{"key":"45595","doi-asserted-by":"crossref","unstructured":"- McDermott DH, Pastrana DV, Calvo KR, et al. Plerixafor for the treatment of WHIM Syndrome. N Engl J Med. 2019; 380: 163-170.","DOI":"10.1056\/NEJMoa1808575"}],"container-title":["Revista Alergia M\u00e9xico"],"original-title":[],"deposited":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T07:09:12Z","timestamp":1685776152000},"score":1,"resource":{"primary":{"URL":"https:\/\/revistaalergia.mx\/ojs\/index.php\/ram\/article\/view\/1211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,24]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,6,2]]}},"URL":"https:\/\/doi.org\/10.29262\/ram.v70i1.1211","relation":{},"ISSN":["2448-9190","0002-5151"],"issn-type":[{"value":"2448-9190","type":"electronic"},{"value":"0002-5151","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5,24]]}}}