Identificación temprana de síndrome de WHIM. Informe de un caso.
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| 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] |
| Copyright of Revista Alergia de Mexico is the property of Coleg. Mexicano de Inmunologia Clinica y Alergia A.C.; Soc. Lat. de Alergia, Asma e Inmunologia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | MedicLatina |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: lth DbLabel: MedicLatina An: 164312615 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identificación temprana de síndrome de WHIM. Informe de un caso. – Name: TitleAlt Label: Alternate Title Group: TiAlt Data: Early detection of WHIM symdrome. A case report. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Macías-Robles%2C+Ana+Paola%22">Macías-Robles, Ana Paola</searchLink><relatesTo>1</relatesTo><i> paola_maro@hotmail.com</i><br /><searchLink fieldCode="AR" term="%22Tlacuilo-Parra%2C+Alberto%22">Tlacuilo-Parra, Alberto</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Asencio-Gallegos%2C+Adolfo+Eduardo%22">Asencio-Gallegos, Adolfo Eduardo</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Kazuko+de+la+Herrán-Arita%2C+Beatriz%22">Kazuko de la Herrán-Arita, Beatriz</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Lugo-Reyes%2C+Saúl+O%2E%22">Lugo-Reyes, Saúl O.</searchLink><relatesTo>5</relatesTo> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Revista+Alergia+de+Mexico%22">Revista Alergia de Mexico</searchLink>. ene-mar2023, Vol. 70 Issue 1, p47-50. 4p. – Name: Abstract Label: Abstract (English) Group: Ab Data: 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] – Name: Abstract Label: Abstract (Spanish) Group: Ab Data: 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] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Revista Alergia de Mexico is the property of Coleg. Mexicano de Inmunologia Clinica y Alergia A.C.; Soc. Lat. de Alergia, Asma e Inmunologia and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.29262/ram.v70i1.1211 Languages: – Code: spa Text: Spanish PhysicalDescription: Pagination: PageCount: 4 StartPage: 47 Titles: – TitleFull: Identificación temprana de síndrome de WHIM. Informe de un caso. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Macías-Robles, Ana Paola – PersonEntity: Name: NameFull: Tlacuilo-Parra, Alberto – PersonEntity: Name: NameFull: Asencio-Gallegos, Adolfo Eduardo – PersonEntity: Name: NameFull: Kazuko de la Herrán-Arita, Beatriz – PersonEntity: Name: NameFull: Lugo-Reyes, Saúl O. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: ene-mar2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 00025151 Numbering: – Type: volume Value: 70 – Type: issue Value: 1 Titles: – TitleFull: Revista Alergia de Mexico Type: main |
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