Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.
Summary of "Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency."
Adenosine deaminase deficiency is a disorder of purine metabolism manifesting severe combined immunodeficiency (ADA-SCID) and systemic abnormalities. Increased levels of the substrate deoxyadenosine triphosphate (dATP) lead to immunodeficiency and are associated in a murine model with pulmonary insufficiency. We compared a cohort of patients with ADA-SCID and X-linked SCID and found that despite similar radiological and respiratory findings, positive microbiology is significantly less frequent in ADA-SCID patients (p < 0.0005), suggesting a metabolic pathogenesis for the lung disease. Clinicians should be aware of this possibility and correct metabolic abnormalities either through enzyme replacement or haematopoietic stem cell transplant, in addition to treating infectious complications.
Affiliation
Centre of Immunodeficiency, Molecular Immunology Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
Journal Details
This article was published in the following journal.
Name: Journal of clinical immunology
ISSN: 1573-2592
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22350222
- DOI: http://dx.doi.org/10.1007/s10875-012-9658-3
Medical and Biotech [MESH] Definitions
Adenosine Deaminase Inhibitors
Drugs that inhibit ADENOSINE DEAMINASE activity.
Adenosine Deaminase
An enzyme that catalyzes the hydrolysis of adenosine to inosine with the elimination of ammonia. Since there are wide tissue and species variations in the enzyme, it has been used as a tool in the study of human and animal genetics and in medical diagnosis. EC 3.5.4.4.
Infectious Disease Transmission, Patient-to-professional
The transmission of infectious disease or pathogens from patients to health professionals or health care workers. It includes transmission via direct or indirect exposure to bacterial, fungal, parasitic, or viral agents.
Infectious Disease Transmission, Professional-to-patient
The transmission of infectious disease or pathogens from health professional or health care worker to patients. It includes transmission via direct or indirect exposure to bacterial, fungal, parasitic, or viral agents.
Adenosine
A nucleoside that is composed of adenine and d-ribose. Adenosine or adenosine derivatives play many important biological roles in addition to being components of DNA and RNA. Adenosine itself is a neurotransmitter.
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