Varaico: Literature-Extracted Genetic Variants

Gene:DOCK8
Variant:p.S1711*
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DOCK8

NM_203447.4:p.S1711*

Associated Papers

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.

Ollech A et al.

Frontiers in Pediatrics, 2023

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.

Halacli SO

Immunologic Research, 2022

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

Ravendran S et al.

Frontiers in Genome Editing, 2022

35373187 (PubMed )
Supplement: Table1.xlsx › Ark1

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.

Raedler J et al.

Journal of Clinical Immunology, 2021

Treatment options for DOCK8 deficiency-related severe dermatitis.

Ollech A et al.

The Journal of Dermatology, 2021

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long-term follow-up and genetic analysis.

Tavassoli M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.

Mandola AB et al.

Immunological Investigations, 2019

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Broides A et al.

Immunologic Research, 2017

Clinical, immunological and molecular characterization of DOCK8 and DOCK8-like deficient patients: single center experience of twenty-five patients.

Alsum Z et al.

Journal of Clinical Immunology, 2013

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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."