Bibliographic Details
| Title: |
Identificación temprana de síndrome de WHIM. Informe de un caso. |
| Alternate Title: |
Early detection of WHIM symdrome. A case report. |
| Authors: |
Macías-Robles, Ana Paola1 paola_maro@hotmail.com, Tlacuilo-Parra, Alberto2, Asencio-Gallegos, Adolfo Eduardo3, Kazuko de la Herrán-Arita, Beatriz4, Lugo-Reyes, Saúl O.5 |
| Source: |
Revista Alergia de Mexico. ene-mar2023, Vol. 70 Issue 1, p47-50. 4p. |
| Abstract (English): |
Background: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English. Case report: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome. Conclusion: The diagnosis of severe neutropenia from birth should include the search for inborn errors of immunity, through genetic sequencing studies, especially in asymptomatic or oligosymptomatic patients. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): |
Antecedentes: El síndrome WHIM corresponde a un error innato de la inmunidad innata e intrínseca, caracterizada por verrugas (Warts), hypogammaglobulinemia, infecciones y mielocatexis, por sus siglas en inglés. Reporte de caso: Paciente masculino de 4 años, con neutropenia severa y linfopenia de células B desde el nacimiento, sin infecciones severas ni verrugas. El estudio de secuenciación genética informó la variante CXCR4 c.1000C>T (p.Arg334*), relacionada con el síndrome de WHIM. Conclusión: El diagnóstico de neutropenia severa desde el nacimiento debe incluir la búsqueda de errores innatos de la inmunidad, mediante estudios de secuenciación genética, especialmente en pacientes asinto-máticos u oligosintomáticos. [ABSTRACT FROM AUTHOR] |
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| Database: |
MedicLatina |
