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Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis.

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Title: Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis.
Alternate Title: Enfoque integral de las inmunodeficiencias primarias en la edad adulta: reconocimiento y diagnóstico.
Authors: Muñoz-Echeverria, Laura1, Sánchez-Cano, Juan Gabriel1, Losa-García, Juan Emilio1 juanemilio.losa@salud.madrid.org
Source: Revista Española de Quimioterapia. 2025 Supplement, Vol. 38, p38-42. 5p.
Subjects: PRIMARY immunodeficiency diseases, DIAGNOSIS, LABORATORY techniques, ANTIGEN analysis, ADULTS, AUTOIMMUNITY, TRANSFORMING growth factors
Abstract (English): Primary immunodeficiencies, now referred to as inborn errors of immunity (IEI), are increasingly recognized in adults, not only in the pediatric population. In adults, they may present with recurrent, severe, or unusual infections, but also with autoimmunity, malignancy, allergies, or inflammation, posing a diagnostic challenge. This review is based on clinical experience and the 2022 International Union of Immunological Societies classification. It includes four clinical cases and proposes a practical approach for the evaluation of adults. In the presence of suspected IEI, a stepwise laboratory approach is proposed to facilitate early detection and improve prognosis. Initial screening with basic immunological tests—including complete blood count, immunoglobulin and complement levels, and lymphocyte immunophenotyping—is emphasized. Confirmation of each IEI requires more specific testing, often involving molecular techniques. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): Las inmunodeficiencias primarias, ahora denominadas errores innatos de la inmunidad (EII), son cada vez más reconocidas en adultos, además de en la población pediátrica. En los adultos, pueden manifestarse como infecciones recurrentes, graves o inusuales, pero también con autoinmunidad, neoplasias malignas, alergias o inflamación, lo que supone un desafío diagnóstico. Esta revisión se basa en la experiencia clínica y en la clasificación de la Unión Internacional de Sociedades Inmunológicas de 2022. Incluye cuatro casos clínicos y propone un abordaje práctico para la evaluación en adultos. Ante la sospecha de EII, se plantea un enfoque escalonado de laboratorio para facilitar la detección temprana y mejorar el pronóstico. Se enfatiza la necesidad de realizar inicialmente un cribado con pruebas inmunológicas básicas —incluyendo hemograma, niveles de inmunoglobulinas y complemento, y un estudio inmunofenotípico de linfocitos—. La confirmación de cada EII requiere pruebas más específicas, que a menudo incluyen técnicas de biología molecular. [ABSTRACT FROM AUTHOR]
Copyright of Revista Española de Quimioterapia is the property of Sociedad Espanola de Quimioterapia 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
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PubType: Academic Journal
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  Data: Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis.
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  Data: Enfoque integral de las inmunodeficiencias primarias en la edad adulta: reconocimiento y diagnóstico.
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  Data: <searchLink fieldCode="AR" term="%22Muñoz-Echeverria%2C+Laura%22">Muñoz-Echeverria, Laura</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Sánchez-Cano%2C+Juan+Gabriel%22">Sánchez-Cano, Juan Gabriel</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Losa-García%2C+Juan+Emilio%22">Losa-García, Juan Emilio</searchLink><relatesTo>1</relatesTo><i> juanemilio.losa@salud.madrid.org</i>
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  Data: <searchLink fieldCode="JN" term="%22Revista+Española+de+Quimioterapia%22">Revista Española de Quimioterapia</searchLink>. 2025 Supplement, Vol. 38, p38-42. 5p.
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  Data: <searchLink fieldCode="DE" term="%22PRIMARY+immunodeficiency+diseases%22">PRIMARY immunodeficiency diseases</searchLink><br /><searchLink fieldCode="DE" term="%22DIAGNOSIS%22">DIAGNOSIS</searchLink><br /><searchLink fieldCode="DE" term="%22LABORATORY+techniques%22">LABORATORY techniques</searchLink><br /><searchLink fieldCode="DE" term="%22ANTIGEN+analysis%22">ANTIGEN analysis</searchLink><br /><searchLink fieldCode="DE" term="%22ADULTS%22">ADULTS</searchLink><br /><searchLink fieldCode="DE" term="%22AUTOIMMUNITY%22">AUTOIMMUNITY</searchLink><br /><searchLink fieldCode="DE" term="%22TRANSFORMING+growth+factors%22">TRANSFORMING growth factors</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Primary immunodeficiencies, now referred to as inborn errors of immunity (IEI), are increasingly recognized in adults, not only in the pediatric population. In adults, they may present with recurrent, severe, or unusual infections, but also with autoimmunity, malignancy, allergies, or inflammation, posing a diagnostic challenge. This review is based on clinical experience and the 2022 International Union of Immunological Societies classification. It includes four clinical cases and proposes a practical approach for the evaluation of adults. In the presence of suspected IEI, a stepwise laboratory approach is proposed to facilitate early detection and improve prognosis. Initial screening with basic immunological tests—including complete blood count, immunoglobulin and complement levels, and lymphocyte immunophenotyping—is emphasized. Confirmation of each IEI requires more specific testing, often involving molecular techniques. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: Las inmunodeficiencias primarias, ahora denominadas errores innatos de la inmunidad (EII), son cada vez más reconocidas en adultos, además de en la población pediátrica. En los adultos, pueden manifestarse como infecciones recurrentes, graves o inusuales, pero también con autoinmunidad, neoplasias malignas, alergias o inflamación, lo que supone un desafío diagnóstico. Esta revisión se basa en la experiencia clínica y en la clasificación de la Unión Internacional de Sociedades Inmunológicas de 2022. Incluye cuatro casos clínicos y propone un abordaje práctico para la evaluación en adultos. Ante la sospecha de EII, se plantea un enfoque escalonado de laboratorio para facilitar la detección temprana y mejorar el pronóstico. Se enfatiza la necesidad de realizar inicialmente un cribado con pruebas inmunológicas básicas —incluyendo hemograma, niveles de inmunoglobulinas y complemento, y un estudio inmunofenotípico de linfocitos—. La confirmación de cada EII requiere pruebas más específicas, que a menudo incluyen técnicas de biología molecular. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Revista Española de Quimioterapia is the property of Sociedad Espanola de Quimioterapia 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:
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      – Type: doi
        Value: 10.37201/req/s01.06.2025
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 5
        StartPage: 38
    Subjects:
      – SubjectFull: PRIMARY immunodeficiency diseases
        Type: general
      – SubjectFull: DIAGNOSIS
        Type: general
      – SubjectFull: LABORATORY techniques
        Type: general
      – SubjectFull: ANTIGEN analysis
        Type: general
      – SubjectFull: ADULTS
        Type: general
      – SubjectFull: AUTOIMMUNITY
        Type: general
      – SubjectFull: TRANSFORMING growth factors
        Type: general
    Titles:
      – TitleFull: Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis.
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            NameFull: Muñoz-Echeverria, Laura
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            NameFull: Sánchez-Cano, Juan Gabriel
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            NameFull: Losa-García, Juan Emilio
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            – D: 02
              M: 10
              Text: 2025 Supplement
              Type: published
              Y: 2025
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              Value: 02143429
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              Value: 38
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