Non-infectious Lung Disease in Patients with Adenosine Deaminase Deficient Severe Combined Immunodeficiency

被引：33

作者：

Booth, C. ^{[1
,2
]}

Algar, V. E. ^{[2
]}

Xu-Bayford, J. ^{[2
]}

Fairbanks, L. ^{[3
]}

Owens, C. ^{[4
]}

Gaspar, H. B. ^{[1
,2
]}

机构：

[1] Inst Child Hlth, Ctr Immunodeficiency, Mol Immunol Unit, London WC1N 1EH, England

[2] Great Ormond St Hosp Natl Hlth Serv Trust, Dept Clin Immunol, London, England

[3] Guys & St Thomass NHS Trust, Purine Res Lab, London, England

[4] Great Ormond St Hosp Natl Hlth Serv Trust, Dept Radiol, London, England

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2012年 / 32卷 / 03期

关键词：

SCID; adenosine deaminase; haematopoeitic stem cell transplant; enzyme replacement; ABNORMALITIES; REPLACEMENT; THERAPY; MICE;

D O I：

10.1007/s10875-012-9658-3

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：449 / 453

页数：5

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