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Combined immunodeficiency due to DOCK8 deficiency. State of the art.

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Title: Combined immunodeficiency due to DOCK8 deficiency. State of the art.
Alternate Title: Inmunodeficiencia combinada debida a deficiencia de DOCK8. Lo que sabemos hasta ahora.
Authors: Liquidano-Pérez, Eduardo1 megpetite@gmail.com, Maza-Ramos, Gibert2, Yamazaki-Nakashimada, Marco Antonio3, Barragán-Arévalo, Tania4, Lugo-Reyes, Saúl Oswald1, Scheffler-Mendoza, Selma3, Espinosa-Padilla, Sara Elva1, González-Serrano, María Edith1
Source: Revista Alergia de Mexico. ene-mar2022, Vol. 69 Issue 1, p31-47. 17p.
Subjects: SEVERE combined immunodeficiency, IMMUNITY, AUTOIMMUNITY, INFECTION, HEMATOPOIETIC stem cell transplantation
Abstract (English): Combined immunodeficiency (CID) due to DOCK8 deficiency is an inborn error of immunity (IBD) characterized by dysfunctional T and B lymphocytes; The spectrum of manifestations includes allergy, autoimmunity, inflammation, predisposition to cancer, and recurrent infections. DOCK8 deficiency can be distinguished from other CIDs or within the spectrum of hyper-IgE syndromes by exhibiting profound susceptibility to viral skin infections, associated skin cancers, and severe food allergies. The 9p24.3 subtelomeric locus where DOCK8 is located includes numerous repetitive sequence elements that predispose to the generation of large germline deletions and recombination-mediated somatic DNA repair. Residual production DOCK8 protein contributes to the variable phenotype of the disease. Severe viral skin infections and varicellazoster virus (VZV)-associated vasculopathy, reflect an essential role of the DOCK8 protein, which is required to maintain lymphocyte integrity as cells migrate through the tissues. Loss of DOCK8 causes immune deficiencies through other mechanisms, including a cell survival defect. In addition, there are alterations in the response of dendritic cells, which explains susceptibility to virus infection and regulatory T lymphocytes that could help explain autoimmunity in patients. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment; it improves eczema, allergies, and susceptibility to infections. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): La inmunodeficiencia combinada (IDC) por deficiencia de DOCK8 es un error innato de la inmunidad, caracterizado por alteración en linfocitos T y B; el espectro de manifestaciones incluye alergia, autoinmunidad, inflamación, predisposición a cáncer e infecciones recurrentes. La deficiencia de DOCK8 se puede distinguir de otras IDC o dentro del espectro de síndromes de hiper-IgE porque presenta una profunda susceptibilidad a las infecciones virales de la piel, con cánceres de piel asociados y alergias alimentarias graves. El locus subtelomérico 9p24.3, donde se ubica DOCK8, incluye numerosos elementos repetitivos de secuencia que predisponen a la generación de grandes deleciones de la línea germinal, así como a la reparación del ADN somático, mediada por recombinación. La producción residual de la proteína DOCK8 contribuye al fenotipo variable de la enfermedad. Las infecciones virales graves de la piel y la vasculopatía asociada a virus de la varicela Zóster (VVZ) reflejan una función importante de la proteína DOCK8, que normalmente se requiere para mantener la integridad de los linfocitos a medida que las células migran a través de tejidos. La pérdida de DOCK8 provoca deficiencias inmunitarias a través de otros mecanismos, incluido un defecto de supervivencia celular. Existen alteraciones en la respuesta de las células dendríticas, lo que explica la susceptibilidad a infección por virus, así como en los linfocitos T reguladores que podrían ayudar a explicar la autoinmunidad en los pacientes. El trasplante de células hematopoyéticas pluripotenciales es por el momento el único tratamiento curativo, mejora el eccema, la alergia y la susceptibilidad a infecciones. [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.)
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  Data: Combined immunodeficiency due to DOCK8 deficiency. State of the art.
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  Data: Inmunodeficiencia combinada debida a deficiencia de DOCK8. Lo que sabemos hasta ahora.
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  Data: <searchLink fieldCode="AR" term="%22Liquidano-Pérez%2C+Eduardo%22">Liquidano-Pérez, Eduardo</searchLink><relatesTo>1</relatesTo><i> megpetite@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Maza-Ramos%2C+Gibert%22">Maza-Ramos, Gibert</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Yamazaki-Nakashimada%2C+Marco+Antonio%22">Yamazaki-Nakashimada, Marco Antonio</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Barragán-Arévalo%2C+Tania%22">Barragán-Arévalo, Tania</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Lugo-Reyes%2C+Saúl+Oswald%22">Lugo-Reyes, Saúl Oswald</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Scheffler-Mendoza%2C+Selma%22">Scheffler-Mendoza, Selma</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Espinosa-Padilla%2C+Sara+Elva%22">Espinosa-Padilla, Sara Elva</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22González-Serrano%2C+María+Edith%22">González-Serrano, María Edith</searchLink><relatesTo>1</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22Revista+Alergia+de+Mexico%22">Revista Alergia de Mexico</searchLink>. ene-mar2022, Vol. 69 Issue 1, p31-47. 17p.
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  Data: <searchLink fieldCode="DE" term="%22SEVERE+combined+immunodeficiency%22">SEVERE combined immunodeficiency</searchLink><br /><searchLink fieldCode="DE" term="%22IMMUNITY%22">IMMUNITY</searchLink><br /><searchLink fieldCode="DE" term="%22AUTOIMMUNITY%22">AUTOIMMUNITY</searchLink><br /><searchLink fieldCode="DE" term="%22INFECTION%22">INFECTION</searchLink><br /><searchLink fieldCode="DE" term="%22HEMATOPOIETIC+stem+cell+transplantation%22">HEMATOPOIETIC stem cell transplantation</searchLink>
– Name: Abstract
  Label: Abstract (English)
  Group: Ab
  Data: Combined immunodeficiency (CID) due to DOCK8 deficiency is an inborn error of immunity (IBD) characterized by dysfunctional T and B lymphocytes; The spectrum of manifestations includes allergy, autoimmunity, inflammation, predisposition to cancer, and recurrent infections. DOCK8 deficiency can be distinguished from other CIDs or within the spectrum of hyper-IgE syndromes by exhibiting profound susceptibility to viral skin infections, associated skin cancers, and severe food allergies. The 9p24.3 subtelomeric locus where DOCK8 is located includes numerous repetitive sequence elements that predispose to the generation of large germline deletions and recombination-mediated somatic DNA repair. Residual production DOCK8 protein contributes to the variable phenotype of the disease. Severe viral skin infections and varicellazoster virus (VZV)-associated vasculopathy, reflect an essential role of the DOCK8 protein, which is required to maintain lymphocyte integrity as cells migrate through the tissues. Loss of DOCK8 causes immune deficiencies through other mechanisms, including a cell survival defect. In addition, there are alterations in the response of dendritic cells, which explains susceptibility to virus infection and regulatory T lymphocytes that could help explain autoimmunity in patients. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment; it improves eczema, allergies, and susceptibility to infections. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label: Abstract (Spanish)
  Group: Ab
  Data: La inmunodeficiencia combinada (IDC) por deficiencia de DOCK8 es un error innato de la inmunidad, caracterizado por alteración en linfocitos T y B; el espectro de manifestaciones incluye alergia, autoinmunidad, inflamación, predisposición a cáncer e infecciones recurrentes. La deficiencia de DOCK8 se puede distinguir de otras IDC o dentro del espectro de síndromes de hiper-IgE porque presenta una profunda susceptibilidad a las infecciones virales de la piel, con cánceres de piel asociados y alergias alimentarias graves. El locus subtelomérico 9p24.3, donde se ubica DOCK8, incluye numerosos elementos repetitivos de secuencia que predisponen a la generación de grandes deleciones de la línea germinal, así como a la reparación del ADN somático, mediada por recombinación. La producción residual de la proteína DOCK8 contribuye al fenotipo variable de la enfermedad. Las infecciones virales graves de la piel y la vasculopatía asociada a virus de la varicela Zóster (VVZ) reflejan una función importante de la proteína DOCK8, que normalmente se requiere para mantener la integridad de los linfocitos a medida que las células migran a través de tejidos. La pérdida de DOCK8 provoca deficiencias inmunitarias a través de otros mecanismos, incluido un defecto de supervivencia celular. Existen alteraciones en la respuesta de las células dendríticas, lo que explica la susceptibilidad a infección por virus, así como en los linfocitos T reguladores que podrían ayudar a explicar la autoinmunidad en los pacientes. El trasplante de células hematopoyéticas pluripotenciales es por el momento el único tratamiento curativo, mejora el eccema, la alergia y la susceptibilidad a infecciones. [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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        Value: 10.29262/ram.v69i1.1104
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      – SubjectFull: SEVERE combined immunodeficiency
        Type: general
      – SubjectFull: IMMUNITY
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      – SubjectFull: INFECTION
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      – SubjectFull: HEMATOPOIETIC stem cell transplantation
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