Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency

J Clin Immunol. 2019 Nov;39(8):842-845. doi: 10.1007/s10875-019-00697-2. Epub 2019 Oct 15.

Affiliations

¹ Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. [email protected].
² Hospital de Clínicas, Federal University of Uberlândia, Uberlândia, Brazil.
³ Seattle Children's Hospital, Seattle, WA, USA.
⁴ Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.
⁵ Department of Rheumatology and Immunology, Duke University Medical Center, Durham, NC, USA.

PMID: 31617030
DOI: 10.1007/s10875-019-00697-2

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Deaminase / deficiency*
Adenosine Deaminase / genetics
Adenosine Deaminase / immunology
Agammaglobulinemia / diagnosis
Agammaglobulinemia / genetics*
Agammaglobulinemia / immunology
Child
Female
Homozygote
Humans
Intercellular Signaling Peptides and Proteins / deficiency
Intercellular Signaling Peptides and Proteins / genetics*
Loss of Function Mutation
Mutation
RNA Splice Sites / genetics*
RNA Splicing / genetics
RNA Splicing / immunology*
Severe Combined Immunodeficiency / diagnosis
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / immunology

Substances

Intercellular Signaling Peptides and Proteins
RNA Splice Sites
ADA2 protein, human
Adenosine Deaminase

Supplementary concepts

Severe combined immunodeficiency due to adenosine deaminase deficiency