A Bronchovascular Anomaly in a Patient With 22q11.2 Deletion Syndrome

J Investig Allergol Clin Immunol. 2016;26(6):390-392. doi: 10.18176/jiaci.0107.

Authors

R Romano¹, E Cirillo¹, G Giardino¹, V Gallo¹, C Mollica², C Pignata¹

Affiliations

¹ Department of Translational Medical Sciences, Unit of Immunology, Federico II University, Naples, Italy.
² Biostructure and Bioimaging Institute (IBB), National Council of Research (CNR), Naples, Italy.

PMID: 27996952
DOI: 10.18176/jiaci.0107

No abstract available

Keywords: 22q11.2 deletion syndrome; CT angiography; Hyperlucent lung; Recurrent respiratory infections.; TBX1.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Adolescent
Bronchi / abnormalities*
Bronchi / diagnostic imaging
DiGeorge Syndrome / complications*
DiGeorge Syndrome / diagnosis
DiGeorge Syndrome / genetics
Female
Genetic Predisposition to Disease
Humans
Multidetector Computed Tomography
Mutation
Phenotype
Predictive Value of Tests
Pulmonary Artery / abnormalities*
Pulmonary Artery / diagnostic imaging
Recurrence
Respiratory Tract Infections / diagnosis
Respiratory Tract Infections / etiology
Risk Factors
T-Box Domain Proteins / genetics

Substances

T-Box Domain Proteins
TBX1 protein, human