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

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

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

“Immune” Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant

(2018) Mikael Sundin et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

(2018) Rainer Malik et al.   NATURE GENETICS

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

Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis

(2017) Abdulrahman Alsultan et al.   PEDIATRIC BLOOD & CANCER

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

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

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

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

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

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

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

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

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

(2015) A Ombrello et al.   Pediatric Rheumatology

Genetic Architecture of Lacunar Stroke

(2015) Matthew Traylor et al.   STROKE

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

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

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

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

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

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

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

Enhanced B-cell activation mediated by TLR4 and BCR crosstalk

(2008) Susana Minguet et al.   EUROPEAN JOURNAL OF IMMUNOLOGY