A misleading case of deficiency of adenosine deaminase 2 (DADA2): the magnifying glass of the scientific knowledge drives the tailored medicine in real life

Clin Exp Rheumatol. 2018 Nov-Dec;36(6 Suppl 115):146. Epub 2018 Jul 19.

Authors

Ilaria Maccora¹, Ivana Frongia², Chiara Azzari³, Silvia Ricci³, Rolando Cimaz², Gabriele Simonini²

Affiliations

¹ Rheumatology Unit, NEUROFARBA Department, AOU A. Meyer Children's Hospital, Florence, Italy. ilamaccora@gmail.com.
² Rheumatology Unit, NEUROFARBA Department, AOU A. Meyer Children's Hospital, Florence, Italy.
³ Immunology Unit, Department of Health Sciences, AOU A. Meyer Children's Hospital, Florence, Italy.

PMID: 30148442

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Deaminase / deficiency*
Adenosine Deaminase / genetics
Agammaglobulinemia / diagnosis*
Agammaglobulinemia / drug therapy
Agammaglobulinemia / enzymology
Agammaglobulinemia / genetics
Child, Preschool
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Immunosuppressive Agents / therapeutic use
Intercellular Signaling Peptides and Proteins / deficiency*
Intercellular Signaling Peptides and Proteins / genetics
Mutation
Phenotype
Predictive Value of Tests
Severe Combined Immunodeficiency / diagnosis*
Severe Combined Immunodeficiency / drug therapy
Severe Combined Immunodeficiency / enzymology
Severe Combined Immunodeficiency / genetics

Substances

Immunosuppressive Agents
Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase

Supplementary concepts

Severe combined immunodeficiency due to adenosine deaminase deficiency