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 insu...

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Bibliographic Details
Published in:	Journal of clinical immunology Vol. 32; no. 3; pp. 449 - 453
Main Authors:	Booth, C., Algar, V. E., Xu-Bayford, J., Fairbanks, L., Owens, C., Gaspar, H. B.
Format:	Journal Article
Language:	English
Published:	Boston Springer US 01-06-2012 Springer Nature B.V
Subjects:	Adenosine Deaminase - deficiency Adenosine Deaminase - therapeutic use Agammaglobulinemia - diagnosis Agammaglobulinemia - microbiology Agammaglobulinemia - therapy Biomedical and Life Sciences Biomedicine Bronchoalveolar Lavage Child, Preschool Enzyme Replacement Therapy Female Hematopoietic Stem Cell Transplantation Humans Immunology Infant Infant, Newborn Infectious Diseases Internal Medicine Lung Diseases - diagnosis Lung Diseases - microbiology Lung Diseases - therapy Male Medical Microbiology Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - microbiology Severe Combined Immunodeficiency - therapy Tomography, X-Ray Computed X-Linked Combined Immunodeficiency Diseases - diagnosis X-Linked Combined Immunodeficiency Diseases - microbiology X-Linked Combined Immunodeficiency Diseases - therapy enzyme replacement SCID haematopoeitic stem cell transplant adenosine deaminase
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0271-9142 1573-2592
DOI:	10.1007/s10875-012-9658-3