| Autor: |
Liquidano-Pérez E; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., Maza-Ramos G; The Mayo Clinics Care Network, Médica Sur, Ciudad de México, México., Yamazaki-Nakashimada MA; Instituto Nacional de Pediatría, Servicio de Inmunología, Ciudad de México, México., Barragán-Arévalo T; Fundación de Asistencia Privada, Instituto de Oftalmología Conde de Valenciana, Departamento de Genética, Ciudad de México, México., Lugo-Reyes SO; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., Scheffler-Mendoza S; Instituto Nacional de Pediatría, Servicio de Inmunología, Ciudad de México, México., Espinosa-Padilla SE; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México., González-Serrano ME; Instituto Nacional de Pediatría, Unidad de Investigación en Inmunodeficiencias, Ciudad de México, México. megpetite@gmail.com. |
| Abstrakt: |
Combinedimmunodeficiency (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 varicella-zoster 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. |
