ADA2 deficiency due to a novel structural variation in 22q11.1

Clin Genet. 2019 Jun;95(6):732-733. doi: 10.1111/cge.13518. Epub 2019 Mar 28.

Authors

Affiliations

¹ UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
² CRS4, Science and Technology Park Polaris, Pula, Italy.
³ UOSD Malattie Autoinfiammatorie/Immunodeficienze, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁴ Ospedale Brotzu and Università di Cagliari, Cagliari, Italy.

PMID: 30920658
DOI: 10.1111/cge.13518

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple*
Adenosine Deaminase / blood
Adenosine Deaminase / deficiency*
Adenosine Deaminase / genetics
Adenosine Deaminase / metabolism
Agammaglobulinemia / enzymology
Agammaglobulinemia / genetics*
Agammaglobulinemia / physiopathology
Chromosome Duplication*
Chromosomes, Human, Pair 22
DiGeorge Syndrome*
Frameshift Mutation
Humans
Intercellular Signaling Peptides and Proteins / blood
Intercellular Signaling Peptides and Proteins / deficiency*
Intercellular Signaling Peptides and Proteins / genetics*
Intercellular Signaling Peptides and Proteins / metabolism
Severe Combined Immunodeficiency / enzymology
Severe Combined Immunodeficiency / genetics*
Severe Combined Immunodeficiency / physiopathology
Whole Genome Sequencing

Substances

Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase

Supplementary concepts

Chromosome 22q11.2 Microduplication Syndrome
Severe combined immunodeficiency due to adenosine deaminase deficiency