Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency

Hirsh D Komarow; Robert Sokolic; Michael S Hershfield; Donald B Kohn; Michael Young; Dean D Metcalfe; Fabio Candotti

doi:10.1186/s13023-015-0365-z

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency

Orphanet J Rare Dis. 2015 Dec 18:10:159. doi: 10.1186/s13023-015-0365-z.

Authors

Hirsh D Komarow¹, Robert Sokolic², Michael S Hershfield³, Donald B Kohn⁴, Michael Young⁵, Dean D Metcalfe⁶, Fabio Candotti^{7

8}

Affiliations

¹ Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, NIH/NIAID/LAD/Bldg. 10, Room 1C129A1, 10 Center Drive, Bethesda, MD, 20892-1960, USA. komarowh@niaid.nih.gov.
² National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. Robert.Sokolic@fda.hhs.gov.
³ Department of Biochemistry, Duke University School of Medicine, Durham, NC, USA. michael.hershfield@dm.duke.edu.
⁴ Department of Microbiology, Immunology and Molecular Genetics, University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA, USA. dkohn@mednet.ucla.edu.
⁵ Clinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Clinical Research, Frederick, MD, 21702, USA. youngmic@mail.nih.gov.
⁶ Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, NIH/NIAID/LAD/Bldg. 10, Room 1C129A1, 10 Center Drive, Bethesda, MD, 20892-1960, USA. DMETCALFE@niaid.nih.gov.
⁷ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. fabio.candotti@chuv.ch.
⁸ Division of Immunology and Allergy, University Hospital of Lausanne, CH-1101, Lausanne, Switzerland. fabio.candotti@chuv.ch.

Abstract

Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary dysfunction likely attributable to elevated systemic adenosine levels. Lung disease assessment has primarily employed repetitive radiography and effort-dependent functional studies. Through impulse oscillometry (IOS), which is effort-independent, we prospectively obtained objective measures of lung dysfunction in 10 children with ADA-SCID. These results support the use of IOS in the identification and monitoring of lung function abnormalities in children with primary immunodeficiencies.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Deaminase / deficiency*
Adolescent
Agammaglobulinemia / diagnosis*
Child
Child, Preschool
Female
Humans
Lung / physiology*
Lung Diseases / diagnosis*
Male
Oscillometry / methods*
Prospective Studies
Severe Combined Immunodeficiency / diagnosis*
Spirometry

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency

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