Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy

DOCK8 Immune Deficiency as a Model for Primary Cytoskeletal Dysfunction

(2013) Sean A. McGhee et al.   DISEASE MARKERS

Clinical Manifestations of Hyper IgE Syndromes

(2013) Alexandra F. Freeman et al.   DISEASE MARKERS

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

(2013) Elizabeth P. Sampaio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

(2012) Ozden Sanal et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Successful bone marrow transplantation for DOCK8 deficient hyper IgE syndrome

(2012) Ayse Metin et al.   PEDIATRIC TRANSPLANTATION

Successful allogeneic hematopoietic stem cell transplantation for DOCK8 deficiency

(2011) Vincent Barlogis et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

The UniProt-GO Annotation database in 2011

(2011) E. C. Dimmer et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Dedicator of cytokinesis 8 (DOCK8) deficiency

(2010) Helen C Su   Current Opinion in Allergy and Clinical Immunology

Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency

(2010) Douglas R. McDonald et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

QuickGO: a web-based tool for Gene Ontology searching

(2009) D. Binns et al.   BIOINFORMATICS

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

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production

(2009) Katrina L Randall et al.   NATURE IMMUNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The Hyper-IgE Syndromes

(2008) Alexandra F. Freeman et al.   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA