ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype

Rheumatology (Oxford). 2021 Jul 1;60(7):e237-e239. doi: 10.1093/rheumatology/keab011.

Authors

Mariana P L Ferriani¹, Elvis T Valera¹, Graziella R de Sousa¹, Paula Sandrin-Garcia², Ronald R de Moura³, Michel S Hershfield⁴, Luciana M de Carvalho¹

Affiliations

¹ Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
² Department of Genetics, Federal University of Pernambuco, Recife, Brazil.
³ Department of Advanced Diagnostics, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
⁴ Department of Medicine, School of Medicine, Duke University, Durham, NC, USA.

PMID: 33493352
DOI: 10.1093/rheumatology/keab011

No abstract available

Publication types

Case Reports

MeSH terms

Adenosine Deaminase / genetics*
Agammaglobulinemia / complications
Agammaglobulinemia / drug therapy
Agammaglobulinemia / genetics*
Anemia, Hemolytic, Autoimmune / complications
Anemia, Hemolytic, Autoimmune / drug therapy
Anemia, Hemolytic, Autoimmune / genetics*
Antirheumatic Agents / therapeutic use
Child
Etanercept / therapeutic use
Female
Glucocorticoids / therapeutic use
Humans
Immunoglobulins, Intravenous / therapeutic use
Immunologic Factors / therapeutic use
Intercellular Signaling Peptides and Proteins / genetics*
Mutation, Missense
Pedigree
Sequence Deletion
Severe Combined Immunodeficiency / complications
Severe Combined Immunodeficiency / drug therapy
Severe Combined Immunodeficiency / genetics*
Thrombocytopenia / complications
Thrombocytopenia / drug therapy
Thrombocytopenia / genetics*

Substances

Antirheumatic Agents
Glucocorticoids
Immunoglobulins, Intravenous
Immunologic Factors
Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase
Etanercept

Supplementary concepts

Evans Syndrome
Severe combined immunodeficiency due to adenosine deaminase deficiency