Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.K623Splc
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DOCK8

NM_203447.4:p.K623Splc

Associated Papers

Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

Gowri V et al.

Scandinavian Journal of Immunology, 2023

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

Liquidano-Pérez E et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2022

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Haskologlu S et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2020

Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy.

Keles S et al.

The Journal of Allergy and Clinical Immunology, 2014

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt KR et al.

The Journal of Allergy and Clinical Immunology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."