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- Title
ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype.
- Authors
Ferriani, Mariana P L; Valera, Elvis T; Sousa, Graziella R de; Sandrin-Garcia, Paula; Moura, Ronald R de; Hershfield, Michel S; Carvalho, Luciana M de
- Abstract
In the article, the authors present a case of a 7-year-old girl who was presented to the pediatric intensive care unit (PICU) due to fever, severe mucocutaneous pallor, splenomegaly, headache, and abdominal pain to discuss deficiency of adenosine deaminase 2 (DADA2) linked with Evans syndrome and severe ADA2 genotype. Other topics include the new evidence for genotype-phenotype correlations of ADA2 deficiency, and vasculitis phenotype.
- Subjects
THERAPEUTIC use of immunoglobulins; THROMBOPENIC purpura diagnosis; GENETIC mutation; SEQUENCE analysis; SEVERE combined immunodeficiency; THROMBOPENIC purpura; HYDROLASES; GENETIC carriers; PANCYTOPENIA; LYMPHOPENIA; GENOTYPES; AUTOIMMUNE hemolytic anemia; ETANERCEPT
- Publication
Rheumatology, 2021, Vol 60, Issue 7, pe237
- ISSN
1462-0324
- Publication type
Article
- DOI
10.1093/rheumatology/keab011