Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

(2016) Florence Fellmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

(2015) Lien Van Eyck et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

(2015) W. F. Westendorp et al.   NEUROLOGY

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

(2014) Nisha Garg et al.   EUROPEAN JOURNAL OF PEDIATRICS

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Mutant ADA2 in Vasculopathies

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

(2014) Paulina Navon Elkan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

(2014) Alexandre Belot et al.   Pediatric Rheumatology

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages

(2010) A. V. Zavialov et al.   JOURNAL OF LEUKOCYTE BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2009) Prateek Kumar et al.   Nature Protocols