Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency.
J Clin Immunol
; 32(3): 449-53, 2012 Jun.
Article
in En
| MEDLINE
| ID: mdl-22350222
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Severe Combined Immunodeficiency
/
Agammaglobulinemia
/
X-Linked Combined Immunodeficiency Diseases
/
Lung Diseases
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
J Clin Immunol
Year:
2012
Type:
Article
Affiliation country:
United kingdom