Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

(2018) Mélanie Rama et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ADA2 deficiency: Clonal lymphoproliferation in a subset of patients

(2018) Luca Trotta et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

(2018) Pui Y. Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia

(2018) Funda Erol Cipe et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure

(2018) Thomas F. Michniacki et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

(2018) Isabelle Meyts et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

(2018) Jérémie Rosain et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

(2018) Jason Michael Springer et al.   Frontiers in Immunology

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene

(2018) Gigliola Di Matteo et al.   Molecular Genetics & Genomic Medicine

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency

(2018) Donald B. Kohn et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

ADA2 Deficiency Mimicking Idiopathic Multicentric Castleman Disease

(2018) Erika Van Nieuwenhove et al.   PEDIATRICS

Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism

(2017) Giorgia Bucciol et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2

(2017) Hasan Hashem et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma

(2017) C Zhu et al.   ONCOGENE

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

(2017) Andrea Skrabl-Baumgartner et al.   Pediatric Rheumatology

Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency

(2017) Sezgin Sahin et al.   RHEUMATOLOGY INTERNATIONAL

Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency

(2017) H Nihira et al.   SCANDINAVIAN JOURNAL OF RHEUMATOLOGY

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders

(2017) Hasan Hashem et al.   Current Rheumatology Reports

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

(2017) Johanna Schepp et al.   Arthritis & Rheumatology

Genomics of Immune Diseases and New Therapies

(2016) Michael Lenardo et al.   Annual Review of Immunology

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells

(2016) Yuliia Kaljas et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

A genome-wide association study of pulmonary tuberculosis in Morocco

(2016) A. V. Grant et al.   HUMAN GENETICS

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation

(2016) Amy P. Hsu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

(2016) Johanna Schepp et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis

(2016) Fabiano de Oliveira Poswar et al.   JOURNAL OF NEUROLOGY

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

(2016) Tal Ben-Ami et al.   JOURNAL OF PEDIATRICS

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

(2016) Joris M. Van Montfrans et al.   RHEUMATOLOGY

Novel compound heterozygous variants inCECR1gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2

(2016) Nikky Keer et al.   RHEUMATOLOGY

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases

(2016) Sira Nanthapisal et al.   Arthritis & Rheumatology

Plasma adenosine deaminase isoform 2 in cancer patients undergoing chemotherapy

(2016) E.L. Roberts et al.   BRITISH JOURNAL OF BIOMEDICAL SCIENCE

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

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

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations

(2015) E. D. BATU et al.   JOURNAL OF RHEUMATOLOGY

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

(2015) A Ombrello et al.   Pediatric Rheumatology

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

(2015) Tania M. Gonzalez Santiago et al.   JAMA Dermatology

Pleural Fluid Adenosine Deaminase (Pfada) in the Diagnosis of Tuberculous Effusions in a Low Incidence Population

(2015) David T. Arnold et al.   PLoS One

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

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

Adenosine Receptors: Expression, Function and Regulation

(2014) Sandeep Sheth et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

Evaluating pleural ADA, ADA2, IFN-γ and IGRA for diagnosing tuberculous pleurisy

(2013) Li-Ta Keng et al.   JOURNAL OF INFECTION

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

(2012) Giancarlo la Marca et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Serum adenosine deaminase activity in patients with systemic lupus erythematosus: a study based on ADA1 and ADA2 isoenzymes pattern

(2011) Reza Saghiri et al.   RHEUMATOLOGY INTERNATIONAL

Diagnostic Value of Adenosine Deaminase Activity in Benign and Malignant Breast Tumors

(2010) Mahmoud Aghaei et al.   ARCHIVES OF MEDICAL RESEARCH

Structural Basis for the Growth Factor Activity of Human Adenosine Deaminase ADA2

(2010) Anton V. Zavialov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD