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DOCK8 Deficiency

A condition of decreased or absent presence or activity of dedicator of cytokinesis protein 8. Deficiency of this protein is associated with… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Pulmonary Complications in Patients with Primary Immunodeficiency Undergoing Hematopoietic Stem Cell Transplantation
2019
2019
Tandem Orthotopic Living Donor Liver Transplantation Followed by Same Donor Haploidentical Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency: Tandem Liver and Bone Marrow Transplant in…
BACKGROUND An 11-year old girl with DOCK8 deficiency was proposed for potentially curative hematopoietic stem cell… 
2019
2019
Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency
ABSTRACT Neutrophil chemotactic defects have been reported previously in patients with hyper-IgE syndrome. Bi-allelic mutations… 
2019
2019
Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency
DOCK8 deficiency is a rare inherited combined immunodeficiency, caused by mutations in the DOCK8 gene. We describe a case with… 
2015
2015
A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report
Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and… 
2015
2015
DOCK8 primary immunodeficiency syndrome
2015
2015
The patient spoke at the age of 3-years and walked without assistance at the age of 2-years
Partial trisomy 9 is a common autosomal trisomy, which is characterized by non‐specific psychomotor delay, mental retardation and… 
2013
2013
Syndrome d’ichtyose du prématuré
2013
2013
Reduced NK cell activity and abnormal expression of CCR7 and CXCR1 by NK cells analysis in patients with DOCK8 deficiency
DOCK8-deficiency is an autosomal recessive primary immunodeficiency that is characterized by multiple abnormalities of the immune… 
2012
2012
Allogeneic Hematopoietic Stem Cell Transplant Reverses The Phenotype Of DOCK8 Deficiency
Background DOCK8 deficiency— a combined immunodeficiency characterized by recurrent sinopulmonary infections and severe cutaneous… 
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