ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes

[1]  S. Özen,et al.  AB0574 A MONOGENIC DISEASE WITH WIDE RANGE OF SYMPTOMS: DEFICIENCY OF ADENOSINE DEAMINASE 2 , 2019, Abstracts Accepted for Publication.

[2]  S. Özen,et al.  A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2 , 2019, The Journal of Rheumatology.

[3]  D. Kastner,et al.  Treatment Strategies for Deficiency of Adenosine Deaminase 2. , 2019, The New England journal of medicine.

[4]  Pui Y. Lee Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2 , 2018, Front. Pediatr..

[5]  I. Meyts,et al.  Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment , 2018, Journal of Clinical Immunology.

[6]  Hong Jiang,et al.  Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences , 2018, Front. Immunol..

[7]  G. Damonte,et al.  ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study , 2017, Annals of the rheumatic diseases.

[8]  M. Hershfield,et al.  Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. , 2016, The Journal of pediatrics.

[9]  F. Penco,et al.  Monogenic polyarteritis: the lesson of ADA2 deficiency , 2016, Pediatric Rheumatology.

[10]  P. Nederkoorn,et al.  Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. , 2016, Rheumatology.

[11]  N. Klein,et al.  Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases , 2016, Arthritis & rheumatology.

[12]  S. Özen,et al.  A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations , 2015, The Journal of Rheumatology.

[13]  T. Walsh,et al.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. , 2014, The New England journal of medicine.

[14]  J. Mullikin,et al.  Early-onset stroke and vasculopathy associated with mutations in ADA2. , 2014, The New England journal of medicine.

[15]  Chaffee Vw,et al.  Suppurative mandibular osteomyelitis associated with Pasteurella multocida in a rabbit. , 1975 .

[16]  O. Kasapcopur,et al.  A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. , 2019, Current opinion in rheumatology.

[17]  H. Ozdogan,et al.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency , 2017, Rheumatology International.

[18]  R. Montali,et al.  Suppurative mandibular osteomyelitis associated with Pasteurella multocida in a rabbit. , 1975, Veterinary medicine, small animal clinician : VM, SAC.