Resumen

LIQUIDANO-PEREZ, Eduardo et al. Combined immunodeficiency due to DOCK8 deficiency. State of the art. Rev. alerg. Méx. [online]. 2022, vol.69, n.1, pp.31-47.  Epub 17-Feb-2023. ISSN 2448-9190.  https://doi.org/10.29262/ram.v69i1.1104.

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.

Palabras llave : DOCK8 deficiency; Combined immunodeficiency; Hypereosinophilia; Hyper-IgE syndrome; Bronchiectasis; Atopic dermatitis; Lymphopenia; Autoimmunity; Viral infection; Food allergy; Cancer.

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