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

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

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

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

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

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

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Monogenic polyarteritis: the lesson of ADA2 deficiency

(2016) Roberta Caorsi et al.   Pediatric 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

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

(2014) Kaan Boztug 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

The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy

(2013) P. Stepensky et al.   BLOOD

A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

(2013) Thierry Vilboux et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE