A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review

Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease, whose clinical phenotype was expanded since the first cases, originally described as mimicker of polyarteritis nodosa, with immunodeficiency and early-onset stroke. A systematic review according to PRISMA appro...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 18; no. 1; pp. 117 - 14
Main Authors:	Maccora, Ilaria, Maniscalco, Valerio, Campani, Silvia, Carrera, Simona, Abbati, Giulia, Marrani, Edoardo, Mastrolia, Maria Vincenza, Simonini, Gabriele
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 13-05-2023 BioMed Central BMC
Subjects:	Abdomen Adenosine Adenosine deaminase Adenosine Deaminase - genetics Age Analysis Arthralgia Autoinflammatory disease Bone marrow Care and treatment Case reports DADA2 Deficiency of adenosine deaminase 2 Diagnosis Dosage and administration Failure to thrive Female Fever Genotype & phenotype Hematology Hematopoietic stem cells Humans Humoral immunodeficiency Immune system Immunodeficiency Immunology Infections Inflammatory diseases Intercellular Signaling Peptides and Proteins - genetics Literature reviews Male Medical research Morbidity Mutation Myalgia Pathogenesis Patients Phenotype Phenotypes Polyneuropathy Prevention Rare diseases Review Risk factors Splenomegaly Statistical analysis Stroke Stroke (Disease) Systematic review Transplantation Tumor necrosis factor inhibitors Tumor necrosis factor-TNF Variables Vasculitis Italy Stroke Vasculitis Autoinflammatory disease DADA2 Systematic review Humoral immunodeficiency Panarteritis nodosa Deficiency of adenosine deaminase 2
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