Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.L216delFs
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DOCK8

NM_001190458.2:p.L216delFs

Associated Papers

Reconstitution of Norovirus-Specific T-Cell Responses Following Hematopoietic Stem Cell Transplantation in Patients With Inborn Errors of Immunity and Chronic Norovirus Infection.

Durkee-Shock J et al.

The Journal of Infectious Diseases, 2025

39140311 (PubMed )
Supplement: jiae398_supplementary_data.zip › NoroHSCTSupplementalCasesandLegendsvRev2.docx

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

Gowri V et al.

Scandinavian Journal of Immunology, 2023

CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome.

Ravendran S et al.

Frontiers in Genome Editing, 2022

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report.

Yang J et al.

Bmc Neurology, 2021

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.

Pillay BA et al.

The Journal of Clinical Investigation, 2021

[Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition].

Koskenvuo M et al.

Duodecim; Laaketieteellinen Aikakauskirja, 2015

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.

Boztug H et al.

Pediatric Hematology and Oncology, 2012

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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."